18-12028912-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12028912
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12028912
    reference: chr 18
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.306A>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.671A>G
  hgvsp: ENSP00000269159.3:p.Gln224Arg
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464754
  ensembl transcript: ENST00000586230
  gene symbol: IMPA2
  hgvsc: ENST00000586230.1:c.*135A>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*274A>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*313A>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.104A>G
  hgvsp: ENSP00000464767.1:p.Gln35Arg
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.104A>G
  hgvsp: ENSP00000465416.1:p.Gln35Arg
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln224Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

18-12028925-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12028925
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12028925
    reference: chr 18
allele count: 5
allele frequency: 4.123643321347277e-5
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464754
  ensembl transcript: ENST00000586230
  gene symbol: IMPA2
  hgvsc: ENST00000586230.1:c.*148C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*326C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.319C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*287C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.684C>T
  hgvsp: ENST00000269159.3:c.684C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.117C>T
  hgvsp: ENST00000589238.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.117C>T
  hgvsp: ENST00000588927.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His228His
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

18-12028939-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12028939
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12028939
    reference: chr 18
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464754
  ensembl transcript: ENST00000586230
  gene symbol: IMPA2
  hgvsc: ENST00000586230.1:c.*162C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.698C>T
  hgvsp: ENSP00000269159.3:p.Ala233Val
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.131C>T
  hgvsp: ENSP00000464767.1:p.Ala44Val
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.131C>T
  hgvsp: ENSP00000465416.1:p.Ala44Val
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*301C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*340C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.333C>T
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala233Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

18-12028940-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12028940
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12028940
    reference: chr 18
allele count: 2
allele frequency: 1.650355651642929e-5
allele num: 121186
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.699G>A
  hgvsp: ENST00000269159.3:c.699G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*302G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.334G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.132G>A
  hgvsp: ENST00000589238.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.132G>A
  hgvsp: ENST00000588927.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*341G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464754
  ensembl transcript: ENST00000586230
  gene symbol: IMPA2
  hgvsc: ENST00000586230.1:c.*163G>A
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala233Ala
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

18-12028949-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12028949
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12028949
    reference: chr 18
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464754
  ensembl transcript: ENST00000586230
  gene symbol: IMPA2
  hgvsc: ENST00000586230.1:c.*172A>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.141A>G
  hgvsp: ENST00000589238.1:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.708A>G
  hgvsp: ENST00000269159.3:c.708A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*311A>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.141A>G
  hgvsp: ENST00000588927.1:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*350A>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.343A>G
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr236Thr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

18-12028953-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12028953
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12028953
    reference: chr 18
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.347A>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.145A>G
  hgvsp: ENSP00000464767.1:p.Ile49Val
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.145A>G
  hgvsp: ENSP00000465416.1:p.Ile49Val
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*354A>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*315A>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.712A>G
  hgvsp: ENSP00000269159.3:p.Ile238Val
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464754
  ensembl transcript: ENST00000586230
  gene symbol: IMPA2
  hgvsc: ENST00000586230.1:c.*176A>G
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile238Val
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

18-12028961-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12028961
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12028961
    reference: chr 18
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*323A>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.153A>T
  hgvsp: ENSP00000464767.1:p.Arg51Ser
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464754
  ensembl transcript: ENST00000586230
  gene symbol: IMPA2
  hgvsc: ENST00000586230.1:c.*184A>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*362A>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.153A>T
  hgvsp: ENSP00000465416.1:p.Arg51Ser
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.720A>T
  hgvsp: ENSP00000269159.3:p.Arg240Ser
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.355A>T
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg240Ser
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

18-12028965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12028965
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12028965
    reference: chr 18
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.157G>A
  hgvsp: ENSP00000465416.1:p.Ala53Thr
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.157G>A
  hgvsp: ENSP00000464767.1:p.Ala53Thr
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.359G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*327G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.724G>A
  hgvsp: ENSP00000269159.3:p.Ala242Thr
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*366G>A
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala242Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

18-12028971-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12028971
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12028971
    reference: chr 18
allele count: 2
allele frequency: 1.654642928056125e-5
allele num: 120872
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.730G>A
  hgvsp: ENSP00000269159.3:p.Gly244Ser
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.163G>A
  hgvsp: ENSP00000464767.1:p.Gly55Ser
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.163G>A
  hgvsp: ENSP00000465416.1:p.Gly55Ser
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.365G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*372G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*333G>A
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11829
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly244Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

18-12028976-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12028976
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12028976
    reference: chr 18
allele count: 2
allele frequency: 1.656369569178275e-5
allele num: 120746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.370C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*377C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*338C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.735C>T
  hgvsp: ENST00000269159.3:c.735C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.168C>T
  hgvsp: ENST00000589238.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.168C>T
  hgvsp: ENST00000588927.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile245Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

18-12028977-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12028977
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12028977
    reference: chr 18
allele count: 2
allele frequency: 1.656808655168415e-5
allele num: 120714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.169G>A
  hgvsp: ENSP00000464767.1:p.Val57Met
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.169G>A
  hgvsp: ENSP00000465416.1:p.Val57Met
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*339G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.736G>A
  hgvsp: ENSP00000269159.3:p.Val246Met
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*378G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.371G>A
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8754
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val246Met
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ

18-12028991-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12028991
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12028991
    reference: chr 18
allele count: 4
allele frequency: 3.339121143315079e-5
allele num: 119792
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.750G>A
  hgvsp: ENST00000269159.3:c.750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.183G>A
  hgvsp: ENST00000589238.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.385G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*392G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.183G>A
  hgvsp: ENST00000588927.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*353G>A
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11297
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
hgvs: c.750G>A
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

18-12028992-GGTGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12028992
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12028988
    reference: chr 18
allele count: 1
allele frequency: 8.351009637065121e-6
allele num: 119746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*354+2_*354+5delTGAG
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*393+2_*393+5delTGAG
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.184+2_184+5delTGAG
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.751+2_751+5delTGAG
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.184+2_184+5delTGAG
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.386+2_386+5delTGAG
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12150
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
hgvs: c.751+2_751+5delTGAG
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: GGTGA
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

18-12028995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12028995
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12028995
    reference: chr 18
allele count: 1
allele frequency: 8.37408722449253e-6
allele num: 119416
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.751+3G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.184+3G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*354+3G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.386+3G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*393+3G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.184+3G>A
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11055
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7759
  bin: 6.75e1
  variant carriers: 0
hgvs: c.751+3G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

18-12028999-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12028999
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12028999
    reference: chr 18
allele count: 5
allele frequency: 4.196109367394552e-5
allele num: 119158
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.751+7T>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.184+7T>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.386+7T>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*393+7T>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.184+7T>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*354+7T>G
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11432
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10919
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: c.751+7T>G
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

18-12029000-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12029000
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12029000
    reference: chr 18
allele count: 1
allele frequency: 8.402937667008386e-6
allele num: 119006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.184+8C>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.751+8C>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*393+8C>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.184+8C>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*354+8C>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.386+8C>G
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 3.25e1
  variant carriers: 0
hgvs: c.751+8C>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

18-12029000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12029000
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12029000
    reference: chr 18
allele count: 1
allele frequency: 8.402937667008386e-6
allele num: 119006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.386+8C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*393+8C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.184+8C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.184+8C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.751+8C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*354+8C>T
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11281
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.75e1
  variant carriers: 0
hgvs: c.751+8C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

18-12029003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12029003
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12029003
    reference: chr 18
allele count: 1
allele frequency: 8.4199181583955e-6
allele num: 118766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.184+11C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*393+11C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.184+11C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.386+11C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*354+11C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.751+11C>T
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10489
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/18-12029007-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12029007
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12029007
    reference: chr 18
allele count: 1
allele frequency: 8.457660949287865e-6
allele num: 118236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.386+15C>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.184+15C>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*393+15C>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*354+15C>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.184+15C>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.751+15C>A
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

18-12029020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12029020
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12029020
    reference: chr 18
allele count: 2
allele frequency: 1.717976910390324e-5
allele num: 116416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*354+28C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.184+28C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.184+28C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*393+28C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.751+28C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.386+28C>T
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12096
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4508
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6402
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum

18-12029021-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12029021
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12029021
    reference: chr 18
allele count: 5
allele frequency: 4.292877258053438e-5
allele num: 116472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.184+29G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.386+29G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.751+29G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*354+29G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*393+29G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.184+29G>A
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15334
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7425
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

18-12029022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12029022
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12029022
    reference: chr 18
allele count: 9
allele frequency: 7.763439376164515e-5
allele num: 115928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*354+30G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*393+30G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.386+30G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.184+30G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.184+30G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.751+30G>A
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13268
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9958
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14426
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12563
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5947
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6894
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7416
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4076
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

18-12029028-A-ACTAGACT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12029028
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12029035
    reference: chr 18
allele count: 1
allele frequency: 8.627085597943303e-6
allele num: 115914
alternate allele: ACTAGACT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.184+37_184+43dupCTAGACT
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.184+37_184+43dupCTAGACT
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*393+37_*393+43dupCTAGACT
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.751+37_751+43dupCTAGACT
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*354+37_*354+43dupCTAGACT
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.386+37_386+43dupCTAGACT
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15288
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6733
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-12029029-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12029029
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12029029
    reference: chr 18
allele count: 82
allele frequency: 7.09121726797883e-4
allele num: 115636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.386+37C>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*393+37C>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.751+37C>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.184+37C>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.184+37C>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*354+37C>A
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12833
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15657
  bin: 1.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9743
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12405
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 9.75e1
  variant carriers: 80
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6799
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

18-12029040-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12029040
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12029040
    reference: chr 18
allele count: 2
allele frequency: 1.754816972589759e-5
allele num: 113972
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.184+48G>C
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.386+48G>C
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.184+48G>C
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*393+48G>C
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*354+48G>C
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.751+48G>C
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12527
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13671
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3579
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

18-12029043-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12029043
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12029043
    reference: chr 18
allele count: 2
allele frequency: 1.763139799354691e-5
allele num: 113434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.184+51A>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*354+51A>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.751+51A>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.184+51A>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.386+51A>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*393+51A>T
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12508
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16523
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4542
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-12029044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12029044
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12029044
    reference: chr 18
allele count: 4
allele frequency: 3.53438068814392e-5
allele num: 113174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.386+52C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.751+52C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*393+52C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.184+52C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.184+52C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*354+52C>T
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12500
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16500
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4613
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3612
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7605
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7500
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6524
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

18-12030311-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030311
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030311
    reference: chr 18
allele count: 3
allele frequency: 2.719066091433129e-5
allele num: 110332
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.752-31C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*394-31C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.185-31C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*355-31C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.387-31C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.185-31C>T
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28546
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8404
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5558
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

18-12030316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030316
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030316
    reference: chr 18
allele count: 1
allele frequency: 8.850810734263259e-6
allele num: 112984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.185-26G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.387-26G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.185-26G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*355-26G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.752-26G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*394-26G>A
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-12030321-GCTCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030321
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030317
    reference: chr 18
allele count: 3
allele frequency: 2.603398302584307e-5
allele num: 115234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.185-16_185-13delCTCT
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.185-16_185-13delCTCT
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*355-16_*355-13delCTCT
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.387-16_387-13delCTCT
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*394-16_*394-13delCTCT
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.752-16_752-13delCTCT
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35742
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: GCTCT
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

18-12030326-CTCTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030326
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030322
    reference: chr 18
allele count: 3
allele frequency: 2.559071909920669e-5
allele num: 117230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*394-9_*394-6delTGTC
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.185-9_185-6delTGTC
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.387-9_387-6delTGTC
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.185-9_185-6delTGTC
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*355-9_*355-6delTGTC
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.752-9_752-6delTGTC
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11724
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37483
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42161
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: CTCTG
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

18-12030326-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030326
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030326
    reference: chr 18
allele count: 1
allele frequency: 8.530239699735563e-6
allele num: 117230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.185-16C>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.185-16C>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*394-16C>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.752-16C>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*355-16C>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.387-16C>G
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37483
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

18-12030333-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030333
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030333
    reference: chr 18
allele count: 4
allele frequency: 3.361796544073152e-5
allele num: 118984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*394-9T>C
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.185-9T>C
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.387-9T>C
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*355-9T>C
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.185-9T>C
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.752-9T>C
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12559
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44072
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6329
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

18-12030334-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030334
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030334
    reference: chr 18
allele count: 1
allele frequency: 8.390528771123156e-6
allele num: 119182
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.752-8G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*394-8G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.387-8G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.185-8G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*355-8G>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.185-8G>A
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
hgvs: c.752-8G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

18-12030338-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030338
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030338
    reference: chr 18
allele count: 686
allele frequency: 5.725350114340082e-3
allele num: 119818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.185-4C>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.752-4C>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.387-4C>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*355-4C>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.185-4C>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*394-4C>G
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 3.25e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 13087
  bin: 2.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 38264
  bin: 2.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 9.75e1
  variant carriers: 679
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
hgvs: c.752-4C>G
num of homozygotes: 4
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD

18-12030346-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030346
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030346
    reference: chr 18
allele count: 1
allele frequency: 8.297515723792297e-6
allele num: 120518
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.189A>G
  hgvsp: ENST00000589238.1:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.189A>G
  hgvsp: ENST00000588927.1:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*398A>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.756A>G
  hgvsp: ENST00000269159.3:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*359A>G
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.391A>G
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly252Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-12030347-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030347
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030347
    reference: chr 18
allele count: 2
allele frequency: 1.658952537367906e-5
allele num: 120558
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.757C>A
  hgvsp: ENSP00000269159.3:p.Pro253Thr
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*399C>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.190C>A
  hgvsp: ENSP00000465416.1:p.Pro64Thr
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*360C>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.392C>A
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.190C>A
  hgvsp: ENSP00000464767.1:p.Pro64Thr
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45819
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro253Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

18-12030347-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030347
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030347
    reference: chr 18
allele count: 3
allele frequency: 2.488428806051859e-5
allele num: 120558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.392C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*360C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*399C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.190C>T
  hgvsp: ENSP00000465416.1:p.Pro64Ser
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.190C>T
  hgvsp: ENSP00000464767.1:p.Pro64Ser
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.757C>T
  hgvsp: ENSP00000269159.3:p.Pro253Ser
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38442
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13883
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro253Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

18-12030348-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030348
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030348
    reference: chr 18
allele count: 1
allele frequency: 8.290911502810618e-6
allele num: 120614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*361C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.758C>T
  hgvsp: ENSP00000269159.3:p.Pro253Leu
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*400C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.191C>T
  hgvsp: ENSP00000465416.1:p.Pro64Leu
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.191C>T
  hgvsp: ENSP00000464767.1:p.Pro64Leu
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.393C>T
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13932
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6673
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro253Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

18-12030353-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030353
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030353
    reference: chr 18
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*366G>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.398G>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.196G>T
  hgvsp: ENSP00000464767.1:p.Asp66Tyr
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*405G>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.763G>T
  hgvsp: ENSP00000269159.3:p.Asp255Tyr
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.196G>T
  hgvsp: ENSP00000465416.1:p.Asp66Tyr
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp255Tyr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

18-12030356-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030356
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030356
    reference: chr 18
allele count: 1
allele frequency: 8.276638360563474e-6
allele num: 120822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*369C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*408C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.199C>T
  hgvsp: ENSP00000464767.1:p.Leu67Phe
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.766C>T
  hgvsp: ENSP00000269159.3:p.Leu256Phe
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.199C>T
  hgvsp: ENSP00000465416.1:p.Leu67Phe
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.401C>T
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6529
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu256Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-12030367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030367
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030367
    reference: chr 18
allele count: 17
allele frequency: 1.40619054709084e-4
allele num: 120894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.412C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.777C>T
  hgvsp: ENST00000269159.3:c.777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.210C>T
  hgvsp: ENST00000588927.1:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.210C>T
  hgvsp: ENST00000589238.1:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*380C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*419C>T
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37738
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14332
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys259Cys
num of homozygotes: 1
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-12030368-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030368
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030368
    reference: chr 18
allele count: 6
allele frequency: 4.964257347100873e-5
allele num: 120864
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.778A>C
  hgvsp: ENST00000269159.3:c.778A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*420A>C
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*381A>C
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.211A>C
  hgvsp: ENST00000588927.1:c.211A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.211A>C
  hgvsp: ENST00000589238.1:c.211A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.413A>C
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14341
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg260Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS

18-12030369-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030369
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030369
    reference: chr 18
allele count: 3
allele frequency: 2.480938125403152e-5
allele num: 120922
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.779G>C
  hgvsp: ENSP00000269159.3:p.Arg260Thr
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.212G>C
  hgvsp: ENSP00000465416.1:p.Arg71Thr
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*421G>C
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.414G>C
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.212G>C
  hgvsp: ENSP00000464767.1:p.Arg71Thr
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*382G>C
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg260Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

18-12030378-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12030378
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 12030378
    reference: chr 18
allele count: 4
allele frequency: 3.306495610627077e-5
allele num: 120974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465416
  ensembl transcript: ENST00000589238
  gene symbol: IMPA2
  hgvsc: ENST00000589238.1:c.221C>T
  hgvsp: ENSP00000465416.1:p.Ala74Val
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000465938
  ensembl transcript: ENST00000590138
  gene symbol: IMPA2
  hgvsc: ENST00000590138.1:c.*391C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000464767
  ensembl transcript: ENST00000588927
  gene symbol: IMPA2
  hgvsc: ENST00000588927.1:c.221C>T
  hgvsp: ENSP00000464767.1:p.Ala74Val
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000269159
  ensembl transcript: ENST00000269159
  gene symbol: IMPA2
  hgvsc: ENST00000269159.3:c.788C>T
  hgvsp: ENSP00000269159.3:p.Ala263Val
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141401
  ensembl protein: ENSP00000466059
  ensembl transcript: ENST00000590107
  gene symbol: IMPA2
  hgvsc: ENST00000590107.1:c.*430C>T
  variant of: http://identifiers.org/hgnc/6051
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141401
  ensembl transcript: ENST00000589374
  gene symbol: IMPA2
  hgvsc: ENST00000589374.1:n.423C>T
  variant of: http://identifiers.org/hgnc/6051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala263Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

X-47442000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442000
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442000
    reference: chr 0
allele count: 1
allele frequency: 4.390586582367404e-5
allele num: 22776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-427+127C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+127C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.-9+127C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-5100G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-5100G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.28+11C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.-9+127C>T
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

X-47442005-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442005
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442005
    reference: chr 0
allele count: 1
allele frequency: 4.375027343920899e-5
allele num: 22857
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.-9+132G>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.-9+132G>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.28+16G>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+132G>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-5105C>G
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-5105C>G
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-427+132G>C
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16540
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26047
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

X-47442014-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442014
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442014
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 22705
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-5114C>G
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.28+25G>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+141G>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-5114C>G
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-427+141G>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.-9+141G>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.-9+141G>C
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23928
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18613
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2258
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genotype depth: GenotypeDepth
  all individuals: 129
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genotype depth: GenotypeDepth
  all individuals: 118
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 86
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genotype depth: GenotypeDepth
  all individuals: 133
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genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 69
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genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 675
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23299
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

X-47442015-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442015
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442015
    reference: chr 0
allele count: 1
allele frequency: 4.392322220758115e-5
allele num: 22767
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.28+26G>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.-9+142G>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.-9+142G>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-5115C>G
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+142G>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-427+142G>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-5115C>G
  variant of: http://identifiers.org/hgnc/11494
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23482
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
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genotype quality: GenotypeQuality
  all individuals: 1227
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genotype quality: GenotypeQuality
  all individuals: 668
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD

X-47442022-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442022
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442022
    reference: chr 0
allele count: 3
allele frequency: 1.372369624885636e-4
allele num: 21860
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.-9+149A>G
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-427+149A>G
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-5122T>C
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.28+33A>G
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-5122T>C
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.-9+149A>G
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+149A>G
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22860
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19307
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
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genotype quality: GenotypeQuality
  all individuals: 2935
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

X-47442025-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442025
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442025
    reference: chr 0
allele count: 1
allele frequency: 4.706546806607992e-5
allele num: 21247
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.28+36G>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-427+152G>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+152G>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-5125C>G
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.-9+152G>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-5125C>G
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.-9+152G>C
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20020
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19416
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4680
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3814
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum

X-47442028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442028
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442028
    reference: chr 0
allele count: 2
allele frequency: 9.623249771447818e-5
allele num: 20783
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.-9+155G>A
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+155G>A
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-5128C>T
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.-9+155G>A
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.28+39G>A
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-427+155G>A
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-5128C>T
  variant of: http://identifiers.org/hgnc/11494
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 122
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 324
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

X-47442775-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442775
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442775
    reference: chr 0
allele count: 2
allele frequency: 2.49007084251547e-5
allele num: 80319
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-5875G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-5875G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.-8-32C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+902C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-426-32C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.29-32C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.-8-32C>T
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
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  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
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1556
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 311
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

X-47442776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442776
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442776
    reference: chr 0
allele count: 2
allele frequency: 2.488614588258716e-5
allele num: 80366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-5876C>T
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.-8-31G>A
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-426-31G>A
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.29-31G>A
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+903G>A
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-5876C>T
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.-8-31G>A
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26353
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genotype quality: GenotypeQuality
  all individuals: 4238
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

X-47442779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442779
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442779
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 80524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.29-28G>A
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.-8-28G>A
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.-8-28G>A
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-5879C>T
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+906G>A
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-5879C>T
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-426-28G>A
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 8096
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genotype depth: GenotypeDepth
  all individuals: 3483
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genotype depth: GenotypeDepth
  all individuals: 352
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genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 26374
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

X-47442794-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442794
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442794
    reference: chr 0
allele count: 5
allele frequency: 6.15278598149242e-5
allele num: 81264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-426-13C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.29-13C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.-8-13C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+921C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-5894G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-5894G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.-8-13C>T
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 129
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genotype quality: GenotypeQuality
  all individuals: 4536
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 258
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

X-47442801-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442801
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442801
    reference: chr 0
allele count: 1
allele frequency: 1.224814746769551e-5
allele num: 81645
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+928C>G
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-5901G>C
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.-8-6C>G
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.-8-6C>G
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-426-6C>G
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.29-6C>G
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-5901G>C
  variant of: http://identifiers.org/hgnc/11494
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2868
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 207
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9349
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  variant carriers: 0
hgvs: c.-8-6C>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

X-47442833-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442833
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442833
    reference: chr 0
allele count: 1
allele frequency: 1.180846667060282e-5
allele num: 84685
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-5933G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.55C>T
  hgvsp: ENST00000441738.1:c.55C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.19C>T
  hgvsp: ENST00000218388.4:c.19C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.19C>T
  hgvsp: ENST00000456754.2:c.19C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+960C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-400C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-5933G>A
  variant of: http://identifiers.org/hgnc/11494
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 721
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4862
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11847
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2820
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu7Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

X-47442836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442836
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442836
    reference: chr 0
allele count: 6
allele frequency: 7.060152499293985e-5
allele num: 84984
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-5936C>T
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-397G>A
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.22G>A
  hgvsp: ENSP00000406671.2:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.58G>A
  hgvsp: ENSP00000405380.1:p.Ala20Thr
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.22G>A
  hgvsp: ENSP00000218388.4:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+963G>A
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-5936C>T
  variant of: http://identifiers.org/hgnc/11494
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9460
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12265
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala8Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

X-47442843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442843
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442843
    reference: chr 0
allele count: 6
allele frequency: 7.019514249613927e-5
allele num: 85476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.65G>A
  hgvsp: ENSP00000405380.1:p.Gly22Asp
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.29G>A
  hgvsp: ENSP00000406671.2:p.Gly10Asp
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-5943C>T
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.29G>A
  hgvsp: ENSP00000218388.4:p.Gly10Asp
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-390G>A
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-5943C>T
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+970G>A
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Gly10Asp
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

X-47442864-TGATA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442864
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442860
    reference: chr 0
allele count: 1
allele frequency: 1.162236608128683e-5
allele num: 86041
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-5968_775-5965delTATC
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.88_91delATAG
  hgvsp: ENSP00000405380.1:p.Ile30ProfsTer47
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+993_-72+996delATAG
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-5968_775-5965delTATC
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.52_55delATAG
  hgvsp: ENSP00000406671.2:p.Ile18ProfsTer47
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-367_-364delATAG
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.52_55delATAG
  hgvsp: ENSP00000218388.4:p.Ile18ProfsTer47
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile18ProfsTer47
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: TGATA
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

X-47442896-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442896
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442896
    reference: chr 0
allele count: 1
allele frequency: 1.171742263571705e-5
allele num: 85343
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.82C>G
  hgvsp: ENSP00000406671.2:p.Pro28Ala
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-337C>G
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-5996G>C
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.118C>G
  hgvsp: ENSP00000405380.1:p.Pro40Ala
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-5996G>C
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+1023C>G
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.82C>G
  hgvsp: ENSP00000218388.4:p.Pro28Ala
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3523
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro28Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

X-47442912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442912
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442912
    reference: chr 0
allele count: 2
allele frequency: 2.370258002583581e-5
allele num: 84379
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.134C>T
  hgvsp: ENSP00000405380.1:p.Thr45Met
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-6012G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-6012G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.98C>T
  hgvsp: ENSP00000406671.2:p.Thr33Met
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-321C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.98C>T
  hgvsp: ENSP00000218388.4:p.Thr33Met
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+1039C>T
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10527
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr33Met
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

X-47442913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442913
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442913
    reference: chr 0
allele count: 1
allele frequency: 1.185213279129579e-5
allele num: 84373
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-6013C>T
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.99G>A
  hgvsp: ENST00000456754.2:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.99G>A
  hgvsp: ENST00000218388.4:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-6013C>T
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.135G>A
  hgvsp: ENST00000441738.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-320G>A
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+1040G>A
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26442
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3529
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr33Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

X-47442928-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442928
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442928
    reference: chr 0
allele count: 3
allele frequency: 3.589933825553149e-5
allele num: 83567
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.150C>T
  hgvsp: ENST00000441738.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.114C>T
  hgvsp: ENST00000218388.4:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-6028G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-6028G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+1055C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-305C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.114C>T
  hgvsp: ENST00000456754.2:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser38Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

X-47442934-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442934
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442934
    reference: chr 0
allele count: 1
allele frequency: 1.200451369715013e-5
allele num: 83302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-6034G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.156C>T
  hgvsp: ENST00000441738.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-299C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.120C>T
  hgvsp: ENST00000456754.2:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.120C>T
  hgvsp: ENST00000218388.4:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-6034G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+1061C>T
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4461
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5663
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1945
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 10034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 7.25e1
  variant carriers: 0
hgvs: c.120C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

X-47442945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442945
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442945
    reference: chr 0
allele count: 11
allele frequency: 1.327476346785094e-4
allele num: 82864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.121+10C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-6045G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-6045G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.157+10C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.121+10C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+1072C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-298+10C>T
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3707
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 294
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 344
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26443
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-47442946-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442946
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442946
    reference: chr 0
allele count: 1
allele frequency: 1.207029741212823e-5
allele num: 82848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.157+11A>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-6046T>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-6046T>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+1073A>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.121+11A>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.121+11A>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-298+11A>T
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1129
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 324
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

X-47442947-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442947
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442947
    reference: chr 0
allele count: 12
allele frequency: 1.450957632037145e-4
allele num: 82704
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.121+12C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.157+12C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.121+12C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-6047G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-6047G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+1074C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-298+12C>T
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1944
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum

X-47442967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442967
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442967
    reference: chr 0
allele count: 1
allele frequency: 1.218086143052037e-5
allele num: 82096
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-6067G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.121+32C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-298+32C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+1094C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-6067G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.121+32C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.157+32C>T
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26443
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

X-47442970-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442970
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442970
    reference: chr 0
allele count: 20
allele frequency: 2.442300647209671e-4
allele num: 81890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+1097C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.121+35C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.121+35C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-6070G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.157+35C>T
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-6070G>A
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-298+35C>T
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9354
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26448
  bin: 9.75e1
  variant carriers: 12
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

X-47442973-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442973
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442973
    reference: chr 0
allele count: 3
allele frequency: 3.663764151289034e-5
allele num: 81883
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000343206
  ensembl transcript: ENST00000340666
  gene symbol: SYN1
  hgvsc: ENST00000340666.4:c.775-6073A>G
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000405380
  ensembl transcript: ENST00000441738
  gene symbol: TIMP1
  hgvsc: ENST00000441738.1:c.157+38T>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000218388
  ensembl transcript: ENST00000218388
  gene symbol: TIMP1
  hgvsc: ENST00000218388.4:c.121+38T>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366216
  ensembl transcript: ENST00000377017
  gene symbol: TIMP1
  hgvsc: ENST00000377017.1:c.-72+1100T>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008056
  ensembl protein: ENSP00000295987
  ensembl transcript: ENST00000295987
  gene symbol: SYN1
  hgvsc: ENST00000295987.7:c.775-6073A>G
  variant of: http://identifiers.org/hgnc/11494
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000406671
  ensembl transcript: ENST00000456754
  gene symbol: TIMP1
  hgvsc: ENST00000456754.2:c.121+38T>C
  variant of: http://identifiers.org/hgnc/11820
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102265
  ensembl protein: ENSP00000366217
  ensembl transcript: ENST00000377018
  gene symbol: TIMP1
  hgvsc: ENST00000377018.2:c.-298+38T>C
  variant of: http://identifiers.org/hgnc/11820
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-47442981-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047442981
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047442981
    reference: chr 0
allele count: 1
allele frequency: 1.224319890300938e-5
allele num: 81678
alternate allele: G
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: C

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

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

GenotypeQuality
all individuals: 1503
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9019
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.509e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

VQSLOD
type: SiteQuality
SIO_000300: -3.956e-1

FS
type: SiteQuality
SIO_000300: 3.038e0

DP
type: SiteQuality
SIO_000300: 1.713855e6

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.687e0

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

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9001
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 560
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 2
allele frequency: 3.001741009785676e-5
allele num: 66628
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: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.725e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.504e1

DP
type: SiteQuality
SIO_000300: 1.712679e6

GenotypeQuality
all individuals: 1478
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 171
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2235
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8839
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variant carriers: 0

GenotypeQuality
all individuals: 41786
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variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.710167e6

QD
type: SiteQuality
SIO_000300: 1.539e1

FS
type: SiteQuality
SIO_000300: 1.0909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.271e0

MQRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

GenotypeQuality
all individuals: 2246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1478
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 42000
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004085556356645e-5
allele num: 66576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.764e0

DP
type: SiteQuality
SIO_000300: 1.709157e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

QD
type: SiteQuality
SIO_000300: 1.521e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 8968
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2534
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1380
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
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: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.219e0

FS
type: SiteQuality
SIO_000300: 3.546e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.459e1

VQSLOD
type: SiteQuality
SIO_000300: -1.259e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.085e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 1.699349e6

GenotypeQuality
all individuals: 222
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.25e1
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GenotypeQuality
all individuals: 42634
bin: 6.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.61e0

DP
type: SiteQuality
SIO_000300: 1.699329e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.98e-1

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

MQ
type: SiteQuality
SIO_000300: 5.86e1

GenotypeQuality
all individuals: 546
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1373
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 595
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
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: 8638
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.41e-1

FS
type: SiteQuality
SIO_000300: 1.444e0

VQSLOD
type: SiteQuality
SIO_000300: 4.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 1.697621e6

QD
type: SiteQuality
SIO_000300: 9.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.924e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8917
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
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GenotypeQuality
all individuals: 2528
bin: 7.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504438092372499e-5
allele num: 66470
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.98e-1

FS
type: SiteQuality
SIO_000300: 1.321e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 1.69591e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.05e0

QD
type: SiteQuality
SIO_000300: 1.151e1

GenotypeQuality
all individuals: 538
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2499
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variant carriers: 0

GenotypeQuality
all individuals: 2231
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01331886940276e-5
allele num: 66372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
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: 8624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.690909e6

MQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.583e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

FS
type: SiteQuality
SIO_000300: 7.312e0

QD
type: SiteQuality
SIO_000300: 3.089e1

MQ
type: SiteQuality
SIO_000300: 5.923e1

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

GenotypeQuality
all individuals: 152
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2474
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 83
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GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
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: 1
allele frequency: 1.522997258604935e-4
allele num: 6566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66298
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 1.423e1

FS
type: SiteQuality
SIO_000300: 1.954e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.685761e6

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

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

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.25e1
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GenotypeQuality
all individuals: 2450
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2196
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variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 9.75e1
variant carriers: 2

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.084205402774397e-5
allele num: 16436
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508841813024323e-5
allele num: 66276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.757e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.637999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.683977e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.395e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.345e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 207
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variant carriers: 0

GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 8.25e1
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GenotypeQuality
all individuals: 451
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.160670280926565e-5
allele num: 16232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.556085411414512e-5
allele num: 65846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 7.658e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

DP
type: SiteQuality
SIO_000300: 1.639932e6

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.204e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

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

GenotypeQuality
all individuals: 205
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
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GenotypeQuality
all individuals: 2159
bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2265
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GenotypeQuality
all individuals: 1320
bin: 9.75e1
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GenotypeQuality
all individuals: 1197
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169864295741694e-4
allele num: 8548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65818
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 1.634325e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.86e-1

MQ
type: SiteQuality
SIO_000300: 5.569e1

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

FS
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.318e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 7.06e0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 463
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 545
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.19041723412158e-5
allele num: 16154
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65644
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.907e1

FS
type: SiteQuality
SIO_000300: 2.645e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.609781e6

GenotypeQuality
all individuals: 798
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 407
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37571
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7618
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.376750700280112e-4
allele num: 11424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16102
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: -5.09e-2

FS
type: SiteQuality
SIO_000300: 2.435e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.33e0

DP
type: SiteQuality
SIO_000300: 1.592089e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 534
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1911
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528023959415684e-5
allele num: 65444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.57881e6

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-2

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.263e0

FS
type: SiteQuality
SIO_000300: 2.557e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36357
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1911
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65444
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
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: 1
allele frequency: 9.754194303550527e-5
allele num: 10252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-2

FS
type: SiteQuality
SIO_000300: 2.557e0

DP
type: SiteQuality
SIO_000300: 1.57881e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.206e1

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.263e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

GenotypeQuality
all individuals: 1097
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35826
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7274
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530877805333578e-5
allele num: 65322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.844e0

FS
type: SiteQuality
SIO_000300: 1.3713e1

VQSLOD
type: SiteQuality
SIO_000300: -2.831e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.73e-1

DP
type: SiteQuality
SIO_000300: 1.562642e6

QD
type: SiteQuality
SIO_000300: 3.63e0

GenotypeQuality
all individuals: 1734
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2204
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31664
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15906
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: 1
allele frequency: 1.536381514257621e-5
allele num: 65088
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.496e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.78e0

QD
type: SiteQuality
SIO_000300: 1.068e1

DP
type: SiteQuality
SIO_000300: 1.506009e6

VQSLOD
type: SiteQuality
SIO_000300: 2.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

FS
type: SiteQuality
SIO_000300: 1.656e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
all individuals: 7337
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3893
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5377
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19524
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.960573476702509e-5
allele num: 11160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558409175913228e-5
allele num: 64168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

DP
type: SiteQuality
SIO_000300: 1.323159e6

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

QD
type: SiteQuality
SIO_000300: 9.48e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

GenotypeQuality
all individuals: 3996
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2220
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18682
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4407
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5593
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.926040061633282e-4
allele num: 15576
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.8833761612967e-5
allele num: 10118
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11162
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.207729468599034e-4
allele num: 8280
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64158
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.278e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

DP
type: SiteQuality
SIO_000300: 1.310383e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

FS
type: SiteQuality
SIO_000300: 1.893e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.32e-1

GenotypeQuality
all individuals: 2692
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
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variant carriers: 0

GenotypeQuality
all individuals: 938
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variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16382
bin: 6.25e1
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GenotypeQuality
all individuals: 1284
bin: 9.75e1
variant carriers: 8

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564651395669045e-5
allele num: 63912
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.183361409874304e-4
allele num: 15434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-1

DP
type: SiteQuality
SIO_000300: 1.293892e6

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.975e0

QD
type: SiteQuality
SIO_000300: 1.07e1

MQ
type: SiteQuality
SIO_000300: 5.915e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.82e-1

FS
type: SiteQuality
SIO_000300: 2.391e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

GenotypeQuality
all individuals: 7358
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 544
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
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GenotypeQuality
all individuals: 1500
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2812
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7631
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3932
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.565190170605729e-5
allele num: 63890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.646e0

QD
type: SiteQuality
SIO_000300: 6.97e0

MQ
type: SiteQuality
SIO_000300: 5.196e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 1.261484e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.395e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

GenotypeQuality
all individuals: 3891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 350
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variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 9.25e1
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GenotypeQuality
all individuals: 7390
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3082
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

South Asian
type: Population
allele count: 81
allele frequency: 5.286516120610887e-3
allele num: 15322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56852903347241e-5
allele num: 63754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6274
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.252e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.362e0

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
SIO_000300: 1.254e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 1.257426e6

GenotypeQuality
all individuals: 494
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7618
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7028
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7522
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10110
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3068
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.323977227591685e-4
allele num: 15106
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-1

DP
type: SiteQuality
SIO_000300: 1.209528e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
all individuals: 3043
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6668
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8453
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5440
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7609
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10870
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.33155792276964e-4
allele num: 15020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.788e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.001e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 1.207279e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

GenotypeQuality
all individuals: 153
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1155
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5431
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2072
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.67379679144385e-4
allele num: 14960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62470
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.194e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.031e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.207546e6

FS
type: SiteQuality
SIO_000300: 5.956e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

GenotypeQuality
all individuals: 4649
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3225
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 574
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.646903820816864e-5
allele num: 60720
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.968503937007874e-4
allele num: 10160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

DP
type: SiteQuality
SIO_000300: 1.288345e6

QD
type: SiteQuality
SIO_000300: 1.994e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.287e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 839
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4412
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607303587501607e-5
allele num: 62216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10502
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.795e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.54e-1

FS
type: SiteQuality
SIO_000300: 3.972e0

DP
type: SiteQuality
SIO_000300: 1.355207e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.934e1

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.096e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

GenotypeQuality
all individuals: 1147
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 310
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1969
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 335
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39493
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.282215668675471e-4
allele num: 15598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573564122738002e-5
allele num: 63550
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

MQ
type: SiteQuality
SIO_000300: 5.592e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.126e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.62e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

DP
type: SiteQuality
SIO_000300: 1.407391e6

GenotypeQuality
all individuals: 704
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6060
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.062896501721951e-5
allele num: 11034
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.984025559105431e-5
allele num: 10016
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.312334301224592e-5
allele num: 15842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

DP
type: SiteQuality
SIO_000300: 1.441839e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.836e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

QD
type: SiteQuality
SIO_000300: 1.139e1

GenotypeQuality
all individuals: 339
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1588
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1971
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6060
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.18427285646613e-4
allele num: 8444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15842
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.0e-1

MQ
type: SiteQuality
SIO_000300: 5.836e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

DP
type: SiteQuality
SIO_000300: 1.441839e6

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

QD
type: SiteQuality
SIO_000300: 1.139e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

GenotypeQuality
all individuals: 1631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1704
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1974
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 461
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.940110323089047e-4
allele num: 10152
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.471929e6

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.35e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.71e-1

GenotypeQuality
all individuals: 352
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6345
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1969
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1635
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52592547379986e-5
allele num: 65534
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.062e1

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

DP
type: SiteQuality
SIO_000300: 1.476077e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.07e-1

FS
type: SiteQuality
SIO_000300: 4.437e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.286e0

GenotypeQuality
all individuals: 873
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 7.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1703
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44565
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.520218911523259e-4
allele num: 6578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 409
allele frequency: 6.212595315490476e-3
allele num: 65834
num of homozygotes: 1

Other
type: Population
allele count: 8
allele frequency: 8.948545861297539e-3
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 55
allele frequency: 4.828797190517998e-3
allele num: 11390
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.93140512018761e-4
allele num: 10234
num of homozygotes: 0

South Asian
type: Population
allele count: 210
allele frequency: 1.291036517890077e-2
allele num: 16266
num of homozygotes: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.84e0

DP
type: SiteQuality
SIO_000300: 1.49884e6

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.148e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.297e1

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 420
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45770
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.098304671301378e-5
allele num: 16398
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.048e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.98e0

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

DP
type: SiteQuality
SIO_000300: 1.501747e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 9.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

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

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

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.706251088281386e-5
allele num: 11486
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510072181450273e-5
allele num: 66222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.904e1

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.68e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

DP
type: SiteQuality
SIO_000300: 1.503035e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.291e0

FS
type: SiteQuality
SIO_000300: 4.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e-1

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

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 342
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510072181450273e-5
allele num: 66222
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.098304671301378e-5
allele num: 16398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516990291262136e-4
allele num: 6592
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.291e0

DP
type: SiteQuality
SIO_000300: 1.503035e6

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

MQ
type: SiteQuality
SIO_000300: 5.904e1

QD
type: SiteQuality
SIO_000300: 1.251e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e-1

FS
type: SiteQuality
SIO_000300: 4.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

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

GenotypeQuality
all individuals: 500
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509570678099149e-5
allele num: 66244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.503859e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.49e-1

FS
type: SiteQuality
SIO_000300: 3.565e0

MQRankSum
type: SiteQuality
SIO_000300: -1.396e0

QD
type: SiteQuality
SIO_000300: 1.63e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.962e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.436e0

GenotypeQuality
all individuals: 387
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1953
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46137
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.667440061871617e-5
allele num: 10344
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.328e1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

FS
type: SiteQuality
SIO_000300: 1.3036e1

VQSLOD
type: SiteQuality
SIO_000300: -1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.73e0

DP
type: SiteQuality
SIO_000300: 1.507749e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

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

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

GenotypeQuality
all individuals: 561
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1943
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 201
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.510806e6

FS
type: SiteQuality
SIO_000300: 2.029e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.345e-1

QD
type: SiteQuality
SIO_000300: 1.465e1

MQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

MQ
type: SiteQuality
SIO_000300: 5.891e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.325e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.85e-1

GenotypeQuality
all individuals: 1689
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013863773357444e-5
allele num: 66360
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 15
allele frequency: 1.300052002080083e-3
allele num: 11538
num of homozygotes: 1

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

DP
type: SiteQuality
SIO_000300: 1.505293e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.01e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.218e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
all individuals: 163
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45579
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6479
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 186
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.044317154054869e-5
allele num: 66340
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.505192e6

QD
type: SiteQuality
SIO_000300: 1.212e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 2.054e0

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

GenotypeQuality
all individuals: 1938
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6496
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818181818181818e-4
allele num: 16500
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66386
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e-1

FS
type: SiteQuality
SIO_000300: 2.014e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 9.74e0

DP
type: SiteQuality
SIO_000300: 1.504747e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 859
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 46194
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 410
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.463803255975061e-4
allele num: 11548
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 2.476e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.507789e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.62e-1

QD
type: SiteQuality
SIO_000300: 1.217e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 1076
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15992
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26799
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4735
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4201
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2039
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2020
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.053740779768177e-3
allele num: 949
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 187
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.147e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.24e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.67e-1

FS
type: SiteQuality
SIO_000300: 2.363e0

QD
type: SiteQuality
SIO_000300: 4.19e0

DP
type: SiteQuality
SIO_000300: 5.33645e5

GenotypeQuality
all individuals: 1230
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 375
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.383222116301239e-4
allele num: 4196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 927
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2035
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2045
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.061e0

DP
type: SiteQuality
SIO_000300: 5.2542e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.29e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.89e-1

QD
type: SiteQuality
SIO_000300: 2.813e1

VQSLOD
type: SiteQuality
SIO_000300: -2.902e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2598
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2053
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 913
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4145
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2020
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.975000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.53e-2

DP
type: SiteQuality
SIO_000300: 4.99741e5

QD
type: SiteQuality
SIO_000300: 1.749e1

GenotypeQuality
all individuals: 18274
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2656
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1857
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2030
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.413709872073377e-4
allele num: 4143
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2047
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2011
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.507e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.64e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.99626e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.326e-1

GenotypeQuality
all individuals: 976
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3931
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1585
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 19270
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 179
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.030181086519115e-4
allele num: 1988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 879
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.026167265264238e-3
allele num: 1949
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10955
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3997
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1913
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.01e-2

DP
type: SiteQuality
SIO_000300: 4.75106e5

VQSLOD
type: SiteQuality
SIO_000300: -2.401e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 1.666e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.862e1

GenotypeQuality
all individuals: 231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17006
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3925
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1825
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.380863039399625e-5
allele num: 10660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 845
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.64907e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

FS
type: SiteQuality
SIO_000300: 7.16e0

VQSLOD
type: SiteQuality
SIO_000300: -1.411e0

QD
type: SiteQuality
SIO_000300: 8.31e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16043
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5059
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19416
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1870
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1801
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 815
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1883
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3863
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 173
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.077586206896552e-3
allele num: 1856
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.97e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.605e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-2

DP
type: SiteQuality
SIO_000300: 4.60069e5

GenotypeQuality
all individuals: 394
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8138
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26347
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 176
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3256
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4214
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variant carriers: 0

GenotypeQuality
all individuals: 2911
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2340
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.181738845860151e-4
allele num: 9167
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4413
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45509
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

VQSLOD
type: SiteQuality
SIO_000300: -1.072e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

DP
type: SiteQuality
SIO_000300: 2.264474e6

FS
type: SiteQuality
SIO_000300: 1.0148e1

QD
type: SiteQuality
SIO_000300: 1.739e1

GenotypeQuality
all individuals: 528
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
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variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8351
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
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variant carriers: 0

GenotypeQuality
all individuals: 3247
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variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6449
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.394445420987871e-5
allele num: 45512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4419
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9176
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.751e0

FS
type: SiteQuality
SIO_000300: 1.9722e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-1

DP
type: SiteQuality
SIO_000300: 2.268422e6

QD
type: SiteQuality
SIO_000300: 1.521e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.925e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8213
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9179
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4423
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45609
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.678e0

QD
type: SiteQuality
SIO_000300: 2.523e1

MQ
type: SiteQuality
SIO_000300: 5.901e1

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.247e0

DP
type: SiteQuality
SIO_000300: 2.272951e6

GenotypeQuality
all individuals: 2460
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26399
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8271
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 5.439512619669277e-4
allele num: 9192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6409
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6479
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45911
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.330000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.255e0

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

DP
type: SiteQuality
SIO_000300: 2.296632e6

QD
type: SiteQuality
SIO_000300: 1.399e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e-1

GenotypeQuality
all individuals: 366
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 3458
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2491
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6587
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.171929976977542e-5
allele num: 46042
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

DP
type: SiteQuality
SIO_000300: 2.305482e6

VQSLOD
type: SiteQuality
SIO_000300: -2.778e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.138e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 3.133e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

GenotypeQuality
all individuals: 241
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3487
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variant carriers: 0

GenotypeQuality
all individuals: 26420
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9264
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.188212927756654e-4
allele num: 8416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4491
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47091
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 595
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.83e1

FS
type: SiteQuality
SIO_000300: 7.761e0

MQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.626e-1

DP
type: SiteQuality
SIO_000300: 2.356281e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.544e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.08e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.521e0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 1767
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variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 4892
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variant carriers: 0

GenotypeQuality
all individuals: 26421
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 211
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variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4497
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.271482760812901e-4
allele num: 47189
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6571
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8437
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.327e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 2.361472e6

QD
type: SiteQuality
SIO_000300: 1.68e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.47e-1

FS
type: SiteQuality
SIO_000300: 5.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.673e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.92e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2481
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GenotypeQuality
all individuals: 3102
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9276
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.652892561983471e-3
allele num: 605
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47313
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6577
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8431
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.699954400364797e-4
allele num: 8772
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-2

QD
type: SiteQuality
SIO_000300: 2.57e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

FS
type: SiteQuality
SIO_000300: 6.039e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.406e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.370582e6

GenotypeQuality
all individuals: 26428
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
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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
all individuals: 2617
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.107348323604409e-5
allele num: 47453
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.213e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.631e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.85e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

DP
type: SiteQuality
SIO_000300: 2.380409e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2498
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 609
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.182312603452353e-4
allele num: 8458
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.514e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.79e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.309e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

FS
type: SiteQuality
SIO_000300: 1.1459e1

MQ
type: SiteQuality
SIO_000300: 5.924e1

DP
type: SiteQuality
SIO_000300: 2.366028e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 26444
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 2500
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GenotypeQuality
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GenotypeQuality
all individuals: 153
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GenotypeQuality
all individuals: 2605
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8433
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.034901365705615e-4
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9281
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 601
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.081e0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 3.256e0

MQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

DP
type: SiteQuality
SIO_000300: 2.350299e6

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

QD
type: SiteQuality
SIO_000300: 1.349e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
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GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
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GenotypeQuality
all individuals: 10575
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GenotypeQuality
all individuals: 1788
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GenotypeQuality
all individuals: 2605
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variant carriers: 0

GenotypeQuality
all individuals: 4904
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3123
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.126980750824205e-5
allele num: 47015
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7925
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6593
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9282
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.349533e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.49e-1

QD
type: SiteQuality
SIO_000300: 1.637e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.698e-1

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2502
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.517220452131695e-4
allele num: 6591
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 587
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8415
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.13652387565431e-5
allele num: 46805
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.355748373101952e-4
allele num: 7376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4521
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

QD
type: SiteQuality
SIO_000300: 1.846e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

FS
type: SiteQuality
SIO_000300: 1.478e0

MQRankSum
type: SiteQuality
SIO_000300: -6.95e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

DP
type: SiteQuality
SIO_000300: 2.338683e6

GenotypeQuality
all individuals: 1215
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 26442
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 234
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3531
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4894
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7187
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6587
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.139266231682533e-5
allele num: 46745
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4521
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.335451e6

FS
type: SiteQuality
SIO_000300: 4.445e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

MQRankSum
type: SiteQuality
SIO_000300: -3.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.27e-1

GenotypeQuality
all individuals: 2500
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 7.5e0
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GenotypeQuality
all individuals: 288
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4867
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 2.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.582585933141656e-5
allele num: 46606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4521
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8403
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 577
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 7.593014426727411e-4
allele num: 6585
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9271
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.898130705694827e-4
allele num: 6901
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.621e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.162e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.36e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

DP
type: SiteQuality
SIO_000300: 2.329173e6

VQSLOD
type: SiteQuality
SIO_000300: 6.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.68e-1

GenotypeQuality
all individuals: 2500
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 133
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 3524
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4865
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2589
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6583
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.14638334406525e-5
allele num: 46590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9271
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 577
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6905
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: -4.776e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e0

DP
type: SiteQuality
SIO_000300: 2.328624e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.13e1

GenotypeQuality
all individuals: 3522
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2501
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1779
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3111
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6583
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6815
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.148273861951922e-5
allele num: 46549
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 573
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.309991663689413e-3
allele num: 8397
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9267
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.68e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.116e0

QD
type: SiteQuality
SIO_000300: 1.567e1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 2.327739e6

FS
type: SiteQuality
SIO_000300: 1.124e0

MQRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

GenotypeQuality
all individuals: 208
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
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variant carriers: 0

GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 2241
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GenotypeQuality
all individuals: 2019
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variant carriers: 0

GenotypeQuality
all individuals: 328
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variant carriers: 0

GenotypeQuality
all individuals: 3517
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variant carriers: 0

GenotypeQuality
all individuals: 1785
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variant carriers: 0

GenotypeQuality
all individuals: 2503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9267
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6573
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.552795031055901e-4
allele num: 6440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.412e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

VQSLOD
type: SiteQuality
SIO_000300: -1.107e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.318055e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.728e1

GenotypeQuality
all individuals: 4744
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 325
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9034
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 145
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variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 2.5e0
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GenotypeQuality
all individuals: 1787
bin: 8.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 2503
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 289
bin: 3.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 563
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.195171507111271e-4
allele num: 8367
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

South Asian
type: Population
allele count: 19
allele frequency: 3.002528445006321e-3
allele num: 6328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6567
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46285
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.878e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.67e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: -1.592e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

QD
type: SiteQuality
SIO_000300: 2.003e1

DP
type: SiteQuality
SIO_000300: 2.314891e6

GenotypeQuality
all individuals: 282
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2313
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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: 1695
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 26444
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6567
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.750593824228028e-4
allele num: 6315
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 563
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46287
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.314423e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.878e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.527e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.67e-1