12-54791274-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54791274
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54791274
    reference: chr 12
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-30367G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-9907G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2944-3C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1212-3C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.228-3C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.372-3C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3758-3C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.153-3C>T
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.2944-3C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

12-54791274-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54791274
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54791274
    reference: chr 12
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-9907G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1212-3C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.228-3C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2944-3C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3758-3C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.153-3C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-30367G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.372-3C>G
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9275
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
hgvs: c.2944-3C>G
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

12-54791275-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54791275
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54791275
    reference: chr 12
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-9906G>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.153-4C>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.372-4C>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.228-4C>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1212-4C>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3758-4C>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2944-4C>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-30366G>T
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4417
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: c.2944-4C>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

12-54791297-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54791297
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54791297
    reference: chr 12
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-30344A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1212-26T>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.372-26T>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3758-26T>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2944-26T>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.228-26T>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-9884A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.153-26T>C
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8250
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

12-54792335-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792335
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792335
    reference: chr 12
allele count: 1
allele frequency: 8.673177331783726e-6
allele num: 115298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.227+46A>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.371+46A>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1211+46A>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3757+46A>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2943+46A>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29306T>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8846T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.152+46A>C
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5405
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4476
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-54792338-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792338
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792338
    reference: chr 12
allele count: 2
allele frequency: 1.736442723436767e-5
allele num: 115178
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29303G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.371+43C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8843G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.227+43C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1211+43C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2943+43C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3757+43C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.152+43C>G
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10459
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19309
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26540
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

12-54792349-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792349
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792349
    reference: chr 12
allele count: 1
allele frequency: 8.605851979345956e-6
allele num: 116200
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8832T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2943+32A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29292T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1211+32A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.152+32A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3757+32A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.227+32A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.371+32A>G
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-54792356-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792356
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792356
    reference: chr 12
allele count: 5
allele frequency: 4.261339424207817e-5
allele num: 117334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.227+25A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29285T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8825T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2943+25A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3757+25A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1211+25A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.371+25A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.152+25A>G
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13643
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32285
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3708
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-54792358-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792358
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792358
    reference: chr 12
allele count: 2
allele frequency: 1.699119855914636e-5
allele num: 117708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.371+23G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.152+23G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29283C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.227+23G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3757+23G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2943+23G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1211+23G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8823C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-54792363-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792363
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792363
    reference: chr 12
allele count: 1
allele frequency: 8.432556413802408e-6
allele num: 118588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.227+18G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8818C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.371+18G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1211+18G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2943+18G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29278C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.152+18G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3757+18G>A
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-54792365-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792365
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792365
    reference: chr 12
allele count: 2
allele frequency: 1.681831177786374e-5
allele num: 118918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.227+16G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.371+16G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1211+16G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8816C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.152+16G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2943+16G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3757+16G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29276C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46638
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-54792385-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792385
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792385
    reference: chr 12
allele count: 10
allele frequency: 8.292424041395781e-5
allele num: 120592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3753G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.148G>A
  hgvsp: ENSP00000450267.1:p.Arg50His
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29256C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.367G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1207G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8796C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2939G>A
  hgvsp: ENSP00000293379.4:p.Arg980His
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.223G>A
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15969
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg980His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-54792387-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792387
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792387
    reference: chr 12
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.365G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8794C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3751G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29254C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.146G>A
  hgvsp: ENST00000547197.1:c.146G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.221G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1205G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2937G>A
  hgvsp: ENST00000293379.4:c.2937G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu979Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

12-54792388-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792388
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792388
    reference: chr 12
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8793T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.220A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2936A>G
  hgvsp: ENSP00000293379.4:p.Glu979Gly
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1204A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.364A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3750A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29253T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.145A>G
  hgvsp: ENSP00000450267.1:p.Glu49Gly
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48990
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4421
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu979Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

12-54792389-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792389
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792389
    reference: chr 12
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29252C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.144G>C
  hgvsp: ENSP00000450267.1:p.Glu49Gln
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.219G>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1203G>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3749G>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2935G>C
  hgvsp: ENSP00000293379.4:p.Glu979Gln
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8792C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.363G>C
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3699
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu979Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

12-54792389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792389
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792389
    reference: chr 12
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2935G>A
  hgvsp: ENSP00000293379.4:p.Glu979Lys
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1203G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3749G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29252C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.363G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8792C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.144G>A
  hgvsp: ENSP00000450267.1:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.219G>A
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu979Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

12-54792393-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792393
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792393
    reference: chr 12
allele count: 1
allele frequency: 8.274309922552459e-6
allele num: 120856
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3745A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.215A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2931A>G
  hgvsp: ENST00000293379.4:c.2931A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.359A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.140A>G
  hgvsp: ENST00000547197.1:c.140A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8788T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1199A>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29248T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4432
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln977Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-54792395-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792395
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792395
    reference: chr 12
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8786G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.213C>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1197C>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.138C>A
  hgvsp: ENSP00000450267.1:p.Gln47Lys
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3743C>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.357C>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2929C>A
  hgvsp: ENSP00000293379.4:p.Gln977Lys
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29246G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49032
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln977Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

12-54792399-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792399
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792399
    reference: chr 12
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29242C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8782C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.353G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.134G>A
  hgvsp: ENST00000547197.1:c.134G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2925G>A
  hgvsp: ENST00000293379.4:c.2925G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3739G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.209G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1193G>A
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu975Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-54792400-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792400
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792400
    reference: chr 12
allele count: 1
allele frequency: 8.267195767195768e-6
allele num: 120960
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8781A>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29241A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.133T>A
  hgvsp: ENSP00000450267.1:p.Leu45Gln
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.208T>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3738T>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.352T>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2924T>A
  hgvsp: ENSP00000293379.4:p.Leu975Gln
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1192T>A
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu975Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

12-54792405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792405
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792405
    reference: chr 12
allele count: 3
allele frequency: 2.479052010511181e-5
allele num: 121014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1187G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29236C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2919G>A
  hgvsp: ENST00000293379.4:c.2919G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.203G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.347G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.128G>A
  hgvsp: ENST00000547197.1:c.128G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3733G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8776C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16441
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49145
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg973Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

12-54792407-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792407
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792407
    reference: chr 12
allele count: 2
allele frequency: 1.652510162937502e-5
allele num: 121028
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2917C>T
  hgvsp: ENSP00000293379.4:p.Arg973Trp
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29234G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3731C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.126C>T
  hgvsp: ENSP00000450267.1:p.Arg43Trp
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1185C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.201C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.345C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8774G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg973Trp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

12-54792418-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792418
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792418
    reference: chr 12
allele count: 4
allele frequency: 3.305184181388508e-5
allele num: 121022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.334G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3720G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.115G>A
  hgvsp: ENSP00000450267.1:p.Arg39Gln
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2906G>A
  hgvsp: ENSP00000293379.4:p.Arg969Gln
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1174G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.190G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8763C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29223C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg969Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

12-54792436-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792436
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792436
    reference: chr 12
allele count: 1
allele frequency: 8.275679433281473e-6
allele num: 120836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.97C>T
  hgvsp: ENSP00000450267.1:p.Ala33Val
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1156C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2888C>T
  hgvsp: ENSP00000293379.4:p.Ala963Val
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8745G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29205G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.172C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.316C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3702C>T
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala963Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

12-54792448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792448
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792448
    reference: chr 12
allele count: 1
allele frequency: 8.302475798283047e-6
allele num: 120446
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29193G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.304C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2876C>T
  hgvsp: ENSP00000293379.4:p.Ala959Val
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.85C>T
  hgvsp: ENSP00000450267.1:p.Ala29Val
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1144C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8733G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3690C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.160C>T
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala959Val
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-54792450-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792450
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792450
    reference: chr 12
allele count: 2
allele frequency: 1.660522732556209e-5
allele num: 120444
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29191C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3688G>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.158G>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1142G>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.83G>C
  hgvsp: ENSP00000450267.1:p.Glu28Asp
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2874G>C
  hgvsp: ENSP00000293379.4:p.Glu958Asp
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.302G>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8731C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Glu958Asp
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

12-54792459-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792459
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792459
    reference: chr 12
allele count: 1
allele frequency: 8.346548702111677e-6
allele num: 119810
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29182C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.293G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.149G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2865G>A
  hgvsp: ENST00000293379.4:c.2865G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.74G>A
  hgvsp: ENST00000547197.1:c.74G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3679G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1133G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8722C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu955Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

12-54792463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792463
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792463
    reference: chr 12
allele count: 1
allele frequency: 8.376612497905846e-6
allele num: 119380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3675G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29178C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.70G>A
  hgvsp: ENSP00000450267.1:p.Ser24Asn
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.145G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2861G>A
  hgvsp: ENSP00000293379.4:p.Ser954Asn
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.289G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8718C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1129G>A
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser954Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-54792465-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792465
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792465
    reference: chr 12
allele count: 1
allele frequency: 8.399973120086016e-6
allele num: 119048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1127T>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29176A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2859T>C
  hgvsp: ENST00000293379.4:c.2859T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.287T>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.143T>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.68T>C
  hgvsp: ENST00000547197.1:c.68T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3673T>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8716A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe953Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

12-54792471-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792471
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792471
    reference: chr 12
allele count: 46
allele frequency: 3.921368045965253e-4
allele num: 117306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1121G>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3667G>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2853G>C
  hgvsp: ENSP00000293379.4:p.Gln951His
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.281G>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.62G>C
  hgvsp: ENSP00000450267.1:p.Gln21His
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.137G>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8710C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29170C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16157
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30273
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln951His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

12-54792481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792481
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792481
    reference: chr 12
allele count: 2
allele frequency: 1.753002015952318e-5
allele num: 114090
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8700C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2843G>A
  hgvsp: ENSP00000293379.4:p.Arg948Gln
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3657G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1111G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.52G>A
  hgvsp: ENSP00000450267.1:p.Arg18Gln
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.271G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.127G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29160C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg948Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

12-54792482-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792482
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792482
    reference: chr 12
allele count: 1
allele frequency: 8.822543362800628e-6
allele num: 113346
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8699G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.51C>T
  hgvsp: ENSP00000450267.1:p.Arg18Trp
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2842C>T
  hgvsp: ENSP00000293379.4:p.Arg948Trp
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3656C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29159G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.270C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.126C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1110C>T
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg948Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-54792485-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792485
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792485
    reference: chr 12
allele count: 1
allele frequency: 8.91981090000892e-6
allele num: 112110
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29156G>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8696G>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.51-3C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3656-3C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2842-3C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.270-3C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1110-3C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.123C>G
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23640
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
hgvs: c.2842-3C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

12-54792491-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792491
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792491
    reference: chr 12
allele count: 2
allele frequency: 1.818082650037271e-5
allele num: 110006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1110-9T>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2842-9T>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.270-9T>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8690A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29150A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3656-9T>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.117T>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.51-9T>C
  variant of: http://identifiers.org/hgnc/6141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20703
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10965
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3680
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

12-54792508-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792508
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792508
    reference: chr 12
allele count: 1
allele frequency: 9.729140722291407e-6
allele num: 102784
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29133C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1110-26G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2842-26G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3656-26G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.100G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.270-26G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.51-26G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8673C>T
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6781
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3662
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-54792510-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792510
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792510
    reference: chr 12
allele count: 2
allele frequency: 1.953506544246923e-5
allele num: 102380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8671C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.270-28G>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.51-28G>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3656-28G>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.98G>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1110-28G>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29131C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2842-28G>T
  variant of: http://identifiers.org/hgnc/6141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23474
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

12-54792531-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54792531
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54792531
    reference: chr 12
allele count: 2
allele frequency: 2.251491613193741e-5
allele num: 88830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1110-49C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000549601
  gene symbol: ITGA5
  hgvsc: ENST00000549601.1:n.77C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2842-49C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3656-49C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.51-49C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.270-49C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-8650G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-29110G>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13674
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-54793385-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54793385
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54793385
    reference: chr 12
allele count: 3
allele frequency: 2.49214972835568e-5
allele num: 120378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1109+44T>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.50+263T>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.269+44T>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-7796A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3655+44T>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-28256A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2841+44T>G
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13213
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

12-54793388-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54793388
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54793388
    reference: chr 12
allele count: 1
allele frequency: 8.30675172780436e-6
allele num: 120384
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-28253C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2841+41G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.269+41G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3655+41G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.50+260G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-7793C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1109+41G>A
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4863
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3742
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

12-54793389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54793389
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54793389
    reference: chr 12
allele count: 1
allele frequency: 8.302062232258493e-6
allele num: 120452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3655+40G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1109+40G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.50+259G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-7792C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-28252C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.269+40G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2841+40G>A
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4951
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-54793397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54793397
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54793397
    reference: chr 12
allele count: 7
allele frequency: 5.799406803532667e-5
allele num: 120702
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2841+32G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-28244C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.269+32G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.50+251G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1109+32G>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-7784C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3655+32G>A
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15783
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

12-54793401-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54793401
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54793401
    reference: chr 12
allele count: 6
allele frequency: 4.964421644878372e-5
allele num: 120860
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2841+28C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3655+28C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.269+28C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-28240G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.50+247C>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-7780G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1109+28C>T
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15845
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

12-54793419-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54793419
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54793419
    reference: chr 12
allele count: 2
allele frequency: 1.649294102124291e-5
allele num: 121264
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-7762G>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-28222G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2841+10C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.50+229C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3655+10C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.269+10C>G
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1109+10C>G
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-54793419-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54793419
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54793419
    reference: chr 12
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2841+10C>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.50+229C>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3655+10C>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1109+10C>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.269+10C>A
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-7762G>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-28222G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15038
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/12-54793420-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54793420
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54793420
    reference: chr 12
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1109+9G>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.269+9G>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3655+9G>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-7761C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.50+228G>T
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-28221C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2841+9G>T
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3942
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15998
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

12-54793433-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54793433
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54793433
    reference: chr 12
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258137
  ensembl transcript: ENST00000550474
  gene symbol: RP11-753H16.3
  hgvsc: ENST00000550474.1:n.48-28208A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552387
  gene symbol: ITGA5
  hgvsc: ENST00000552387.1:n.1105T>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552431
  gene symbol: ITGA5
  hgvsc: ENST00000552431.1:n.265T>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000450267
  ensembl transcript: ENST00000547197
  gene symbol: ITGA5
  hgvsc: ENST00000547197.1:c.50+215T>C
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161638
  ensembl protein: ENSP00000293379
  ensembl transcript: ENST00000293379
  gene symbol: ITGA5
  hgvsc: ENST00000293379.4:c.2837T>C
  hgvsp: ENSP00000293379.4:p.Leu946Ser
  variant of: http://identifiers.org/hgnc/6141
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258086
  ensembl transcript: ENST00000552785
  gene symbol: RP11-753H16.5
  hgvsc: ENST00000552785.1:n.106-7748A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161638
  ensembl transcript: ENST00000552564
  gene symbol: ITGA5
  hgvsc: ENST00000552564.1:n.3651T>C
  variant of: http://identifiers.org/hgnc/6141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14930
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16040
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5463
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu946Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

15-75762981-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75762981
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75762979
    reference: chr 15
allele count: 6
allele frequency: 4.959415450232266e-5
allele num: 120982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.230+38_230+39delAG
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1359+38_1359+39delAG
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-643_149-642delAG
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33913
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: CCT
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

15-75762982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75762982
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75762982
    reference: chr 15
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1359+39G>A
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.230+39G>A
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-642G>A
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33907
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

15-75762990-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75762990
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75762990
    reference: chr 15
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.230+31T>C
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-650T>C
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1359+31T>C
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8020
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genotype quality: GenotypeQuality
  all individuals: 3818
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33915
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

15-75763001-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763001
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763001
    reference: chr 15
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1359+20T>A
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-661T>A
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.230+20T>A
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33915
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

15-75763002-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763002
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763002
    reference: chr 15
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.230+19T>C
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-662T>C
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1359+19T>C
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33915
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8677
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

15-75763042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763042
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763042
    reference: chr 15
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.209G>A
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1338G>A
  hgvsp: ENST00000306726.2:c.1338G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-702G>A
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33916
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr446Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

15-75763043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763043
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763043
    reference: chr 15
allele count: 4
allele frequency: 3.294947198471145e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.208C>T
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1337C>T
  hgvsp: ENSP00000303554.2:p.Thr446Met
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-703C>T
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr446Met
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

15-75763044-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763044
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763044
    reference: chr 15
allele count: 59
allele frequency: 4.860047117744938e-4
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.207A>G
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-704A>G
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1336A>G
  hgvsp: ENSP00000303554.2:p.Thr446Ala
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7123
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 9.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33920
  bin: 9.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3820
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr446Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

15-75763055-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763055
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763055
    reference: chr 15
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1325A>T
  hgvsp: ENSP00000303554.2:p.Tyr442Phe
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.196A>T
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-715A>T
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33902
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr442Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

15-75763066-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763066
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763066
    reference: chr 15
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-726C>T
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.185C>T
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1314C>T
  hgvsp: ENST00000306726.2:c.1314C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33901
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8954
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn438Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD

15-75763074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763074
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763074
    reference: chr 15
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.177G>A
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1306G>A
  hgvsp: ENSP00000303554.2:p.Val436Met
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-734G>A
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3472
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1793
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8956
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genotype quality: GenotypeQuality
  all individuals: 33901
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val436Met
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

15-75763075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763075
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763075
    reference: chr 15
allele count: 21
allele frequency: 1.729647810760057e-4
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-735C>T
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1305C>T
  hgvsp: ENST00000306726.2:c.1305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.176C>T
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33900
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8957
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3472
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly435Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/15-75763106-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763106
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763106
    reference: chr 15
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.145G>T
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-766G>T
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1274G>T
  hgvsp: ENSP00000303554.2:p.Arg425Leu
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33892
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg425Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

15-75763107-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763107
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763107
    reference: chr 15
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1273C>T
  hgvsp: ENSP00000303554.2:p.Arg425Ter
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-767C>T
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.144C>T
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33892
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg425Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

15-75763110-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763110
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763110
    reference: chr 15
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-770A>G
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1270A>G
  hgvsp: ENSP00000303554.2:p.Ile424Val
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.141A>G
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33892
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8959
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile424Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

15-75763112-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763112
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763112
    reference: chr 15
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.139G>A
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-772G>A
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1268G>A
  hgvsp: ENSP00000303554.2:p.Arg423Gln
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg423Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

15-75763113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763113
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763113
    reference: chr 15
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-773C>T
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1267C>T
  hgvsp: ENSP00000303554.2:p.Arg423Trp
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.138C>T
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg423Trp
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

15-75763117-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763117
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763117
    reference: chr 15
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.134C>T
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-777C>T
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1263C>T
  hgvsp: ENST00000306726.2:c.1263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp421Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-75763138-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763138
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763138
    reference: chr 15
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1242G>C
  hgvsp: ENSP00000303554.2:p.Gln414His
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-798G>C
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.113G>C
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln414His
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/15-75763146-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763146
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763146
    reference: chr 15
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1234T>G
  hgvsp: ENSP00000303554.2:p.Cys412Gly
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-806T>G
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.105T>G
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys412Gly
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

15-75763150-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763150
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763150
    reference: chr 15
allele count: 4
allele frequency: 3.295435821387378e-5
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1230A>G
  hgvsp: ENST00000306726.2:c.1230A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.101A>G
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-810A>G
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33891
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg410Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

15-75763158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763158
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763158
    reference: chr 15
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1222G>A
  hgvsp: ENSP00000303554.2:p.Gly408Ser
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.93G>A
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-818G>A
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33890
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly408Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

15-75763159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763159
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763159
    reference: chr 15
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.92C>T
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-819C>T
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1221C>T
  hgvsp: ENST00000306726.2:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33889
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8820
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly407Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

15-75763159-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763159
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763159
    reference: chr 15
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-819C>A
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1221C>A
  hgvsp: ENST00000306726.2:c.1221C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.92C>A
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33889
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly407Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/15-75763160-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763160
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763160
    reference: chr 15
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1220G>T
  hgvsp: ENSP00000303554.2:p.Gly407Val
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-820G>T
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.91G>T
  variant of: http://identifiers.org/hgnc/9661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33887
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly407Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

15-75763183-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763183
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763183
    reference: chr 15
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.68G>C
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-843G>C
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1209-12G>C
  variant of: http://identifiers.org/hgnc/9661
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33887
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

15-75763191-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75763191
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 75763191
    reference: chr 15
allele count: 3
allele frequency: 2.476309967973058e-5
allele num: 121148
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl protein: ENSP00000303554
  ensembl transcript: ENST00000306726
  gene symbol: PTPN9
  hgvsc: ENST00000306726.2:c.1209-20C>T
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000563835
  gene symbol: PTPN9
  hgvsc: ENST00000563835.1:n.149-851C>T
  variant of: http://identifiers.org/hgnc/9661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169410
  ensembl transcript: ENST00000568108
  gene symbol: PTPN9
  hgvsc: ENST00000568108.1:n.60C>T
  variant of: http://identifiers.org/hgnc/9661
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13068
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3217
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3466
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2057
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8501
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4423
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

QD
type: SiteQuality
SIO_000300: 9.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

DP
type: SiteQuality
SIO_000300: 2.255267e6

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.318e0

FS
type: SiteQuality
SIO_000300: 3.911e0

GenotypeQuality
all individuals: 4423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8501
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20498
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13068
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2057
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3217
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 8654
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.318e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

FS
type: SiteQuality
SIO_000300: 3.911e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 2.255267e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e-1

QD
type: SiteQuality
SIO_000300: 9.85e0

GenotypeQuality
all individuals: 13067
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3215
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5167
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2057
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8501
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.817e1

VQSLOD
type: SiteQuality
SIO_000300: -1.272e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

QD
type: SiteQuality
SIO_000300: 7.28e0

FS
type: SiteQuality
SIO_000300: 2.789e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.504e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

DP
type: SiteQuality
SIO_000300: 2.255043e6

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

GenotypeQuality
all individuals: 400
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3210
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13057
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 278
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2050
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.238606e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.106e1

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3416
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563623854645526e-5
allele num: 63954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.611e0

FS
type: SiteQuality
SIO_000300: 3.582e0

VQSLOD
type: SiteQuality
SIO_000300: -8.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 1.396632e6

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 5.832e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.522e1

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 488
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 312
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variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10922
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.297858533419857e-4
allele num: 15410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5842
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

FS
type: SiteQuality
SIO_000300: 1.519e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

QD
type: SiteQuality
SIO_000300: 1.321e1

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.412755e6

GenotypeQuality
all individuals: 327
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3727
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552457540286273e-5
allele num: 64414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11040
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e0

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

FS
type: SiteQuality
SIO_000300: 6.365e0

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.505287e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.382e1

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

GenotypeQuality
all individuals: 365
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 215
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GenotypeQuality
all individuals: 484
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.686395080707149e-5
allele num: 65050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.555559e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.543e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 6.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

GenotypeQuality
all individuals: 1184
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 267
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4006
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variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.271617497456765e-4
allele num: 15728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65236
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.242e0

DP
type: SiteQuality
SIO_000300: 1.569973e6

VQSLOD
type: SiteQuality
SIO_000300: -2.087e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.577e0

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 2.515e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 276
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 737
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GenotypeQuality
all individuals: 796
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.761811792268645e-5
allele num: 10244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15864
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65658
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.591065e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.218e0

VQSLOD
type: SiteQuality
SIO_000300: -9.098000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e0

QD
type: SiteQuality
SIO_000300: 1.202e1

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.256439251162206e-4
allele num: 15918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.778e0

MQRankSum
type: SiteQuality
SIO_000300: -3.03e-1

FS
type: SiteQuality
SIO_000300: 4.701e0

VQSLOD
type: SiteQuality
SIO_000300: 3.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 9.08e0

DP
type: SiteQuality
SIO_000300: 1.597371e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.202898986557604e-4
allele num: 66506
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.736412571627018e-4
allele num: 11518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.929e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.313e0

QD
type: SiteQuality
SIO_000300: 1.224e1

DP
type: SiteQuality
SIO_000300: 1.629767e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 494
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.631157e6

VQSLOD
type: SiteQuality
SIO_000300: -6.12e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

FS
type: SiteQuality
SIO_000300: 9.108000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.515e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

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

GenotypeQuality
all individuals: 417
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GenotypeQuality
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GenotypeQuality
all individuals: 492
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 71
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 839
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GenotypeQuality
all individuals: 316
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GenotypeQuality
all individuals: 3700
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.116207951070337e-5
allele num: 16350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.44e0

FS
type: SiteQuality
SIO_000300: 1.163e0

VQSLOD
type: SiteQuality
SIO_000300: -5.843e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

DP
type: SiteQuality
SIO_000300: 1.631707e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

InbreedingCoeff
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DP
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VQSLOD
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ClippingRankSum
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FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -4.98e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
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: 0
allele frequency: 0.0e0
allele num: 888
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.113216774666829e-5
allele num: 16358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.89e0

VQSLOD
type: SiteQuality
SIO_000300: -1.926e-1

InbreedingCoeff
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SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.896e1

QD
type: SiteQuality
SIO_000300: 1.124e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

DP
type: SiteQuality
SIO_000300: 1.633219e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

GenotypeQuality
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variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.102770657878677e-5
allele num: 16386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.689e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e-1

DP
type: SiteQuality
SIO_000300: 1.634145e6

MQRankSum
type: SiteQuality
SIO_000300: -9.65e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.132e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
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: 6388
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: 11548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.157e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

FS
type: SiteQuality
SIO_000300: 1.402e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.689e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

DP
type: SiteQuality
SIO_000300: 1.635244e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

QD
type: SiteQuality
SIO_000300: 1.036e1

FS
type: SiteQuality
SIO_000300: 9.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 2.38e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.14e-1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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: 16418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.878e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.878e0

FS
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 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: 6440
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501260352898812e-5
allele num: 66648
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.072e0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.913e1

MQRankSum
type: SiteQuality
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QD
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SIO_000300: 1.297e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

Other
type: Population
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Latino
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allele count: 0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.000750187546887e-5
allele num: 66650
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South Asian
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African
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East Asian
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
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allele num: 894
num of homozygotes: 0

European (Finnish)
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allele count: 0
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East Asian
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allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.216249087813184e-4
allele num: 16444
num of homozygotes: 0

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

QD
type: SiteQuality
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MQ
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SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.08e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.27e-1

FS
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10376
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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MQ
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.164e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.010416039496658e-5
allele num: 66436
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

QD
type: SiteQuality
SIO_000300: 1.049e1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511030522816561e-5
allele num: 66180
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

ReadPosRankSum
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MQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.3e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65996
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.75800156128025e-5
allele num: 10248
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

East Asian
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South Asian
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allele num: 15990
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65846
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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BaseQRankSum
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FS
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 45

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

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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Other
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East Asian
type: Population
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Latino
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allele frequency: 2.681444404719342e-4
allele num: 11188
num of homozygotes: 0

FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 3.157562361856647e-5
allele num: 63340
num of homozygotes: 0

Other
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South Asian
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Latino
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African
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East Asian
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Other
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Latino
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5662
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 7.429e0

DP
type: SiteQuality
SIO_000300: 1.504033e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.222e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62314
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.227596366314756e-4
allele num: 8146
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15054
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

QD
type: SiteQuality
SIO_000300: 1.797e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.301e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.01e-1

FS
type: SiteQuality
SIO_000300: 3.979e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.24e-1

DP
type: SiteQuality
SIO_000300: 1.471494e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9458
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.347708894878706e-4
allele num: 14840
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61184
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.701e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.88e-1

FS
type: SiteQuality
SIO_000300: 1.665e0

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 1.418869e6

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.148984844152131e-5
allele num: 13988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57238
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.187e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.776e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.408e0

DP
type: SiteQuality
SIO_000300: 1.184832e6

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

QD
type: SiteQuality
SIO_000300: 4.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13928
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.724795640326976e-4
allele num: 7340
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.177e0

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 1.252e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 1.170365e6

GenotypeQuality
all individuals: 1219
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 171
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variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.3178500331785e-4
allele num: 6028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12584
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.035364e6

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-2

QD
type: SiteQuality
SIO_000300: 1.457e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 7.155e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 2
allele frequency: 1.743375174337517e-4
allele num: 11472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.091e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

African
type: Population
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allele num: 10322
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66154
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8494
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MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
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FS
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SIO_000300: 0.0e0

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

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

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

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

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

African
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allele frequency: 0.0e0
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Other
type: Population
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.510482750286992e-5
allele num: 66204
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

Latino
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allele count: 7
allele frequency: 6.082725060827251e-4
allele num: 11508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66334
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 7.4e-3

FS
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MQ
type: SiteQuality
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VQSLOD
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QD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2785
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3808
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.033423667570009e-5
allele num: 66420
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: 8572
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e0

DP
type: SiteQuality
SIO_000300: 1.927013e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 4.881e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.44e-1

QD
type: SiteQuality
SIO_000300: 2.231e1

VQSLOD
type: SiteQuality
SIO_000300: -1.546e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

GenotypeQuality
all individuals: 2900
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3940
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15991
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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

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: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.946282e6

FS
type: SiteQuality
SIO_000300: 5.635e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.411e0

QD
type: SiteQuality
SIO_000300: 1.447e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

GenotypeQuality
all individuals: 5444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14515
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 6034
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15991
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 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: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

DP
type: SiteQuality
SIO_000300: 1.946282e6

FS
type: SiteQuality
SIO_000300: 5.635e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.411e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e-1

QD
type: SiteQuality
SIO_000300: 1.447e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14501
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6030
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
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: 16510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e-1

QD
type: SiteQuality
SIO_000300: 1.479e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.918e1

DP
type: SiteQuality
SIO_000300: 1.946871e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.103e0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 2924
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
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: 16510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.721e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.472e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.417e0

QD
type: SiteQuality
SIO_000300: 1.775e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

DP
type: SiteQuality
SIO_000300: 1.950116e6

VQSLOD
type: SiteQuality
SIO_000300: -1.063e0

GenotypeQuality
all individuals: 1765
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.006907944135756e-5
allele num: 66590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.779e1

DP
type: SiteQuality
SIO_000300: 2.867044e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

MQ
type: SiteQuality
SIO_000300: 6.073e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

FS
type: SiteQuality
SIO_000300: 1.429e0

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.867396e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.27e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e0

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.825e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.965e0

VQSLOD
type: SiteQuality
SIO_000300: -1.724e0

QD
type: SiteQuality
SIO_000300: 1.36e1

GenotypeQuality
all individuals: 132
bin: 2.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.346e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 2.874957e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.54e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 0
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allele num: 8654
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

Other
type: Population
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African
type: Population
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allele frequency: 9.615384615384615e-5
allele num: 10400
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Latino
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.319e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.882001e6

QD
type: SiteQuality
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GenotypeQuality
all individuals: 3510
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
type: Population
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allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.66e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
all individuals: 3510
bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

South Asian
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.2e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

South Asian
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allele num: 16512
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

East Asian
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allele frequency: 2.31107002542177e-4
allele num: 8654
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Other
type: Population
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.886541e6

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

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.224e1

GenotypeQuality
all individuals: 1
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variant carriers: 0

African
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allele count: 3
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allele num: 10404
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European (Finnish)
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Latino
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 8.392279103225033e-4
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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BaseQRankSum
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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Latino
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East Asian
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allele frequency: 2.31107002542177e-4
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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FS
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InbreedingCoeff
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QD
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 1.727414061150458e-4
allele num: 11578
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Other
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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BaseQRankSum
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MQRankSum
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DP
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VQSLOD
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FS
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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East Asian
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allele frequency: 1.848856020337416e-3
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South Asian
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Other
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Latino
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allele frequency: 2.591121091725686e-4
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European (Non-Finnish)
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BaseQRankSum
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MQ
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FS
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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Other
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South Asian
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East Asian
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Latino
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African
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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BaseQRankSum
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MQ
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QD
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 2.996883241428914e-5
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East Asian
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allele frequency: 0.0e0
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Latino
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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FS
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VQSLOD
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DP
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ReadPosRankSum
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QD
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MQ
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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Other
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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allele num: 16512
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African
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MQ
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FS
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
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allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

Other
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East Asian
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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DP
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VQSLOD
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GenotypeQuality
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East Asian
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African
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Other
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European (Finnish)
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allele frequency: 1.511944360447536e-4
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South Asian
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Latino
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European (Non-Finnish)
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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FS
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QD
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeQuality
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variant carriers: 0

Other
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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African
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allele frequency: 9.609840476648087e-5
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European (Finnish)
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ReadPosRankSum
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DP
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FS
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SIO_000300: 1.179e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.28e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

MQRankSum
type: SiteQuality
SIO_000300: 3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
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: 10406
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.567e0

DP
type: SiteQuality
SIO_000300: 2.882853e6

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.95e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.154e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 4.235e0

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.882872e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.444e0

GenotypeQuality
all individuals: 1788
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

FS
type: SiteQuality
SIO_000300: 4.235e0

DP
type: SiteQuality
SIO_000300: 2.882872e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.444e0

GenotypeQuality
all individuals: 3821
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.031000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.612e1

DP
type: SiteQuality
SIO_000300: 2.882468e6

GenotypeQuality
all individuals: 8268
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-2

DP
type: SiteQuality
SIO_000300: 2.877825e6

MQ
type: SiteQuality
SIO_000300: 5.921e1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e0