7-128852257-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852257
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852257
    reference: chr 7
allele count: 2
allele frequency: 1.693967780732811e-5
allele num: 118066
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+1001C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.2329G>A
  hgvsp: ENSP00000249373.3:p.Asp777Asn
  variant of: http://identifiers.org/hgnc/11119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6242
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp777Asn
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6608
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum

7-128852261-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852261
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852261
    reference: chr 7
allele count: 3
allele frequency: 2.544615593404356e-5
allele num: 117896
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+997G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.2333C>T
  hgvsp: ENSP00000249373.3:p.Thr778Ile
  variant of: http://identifiers.org/hgnc/11119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11944
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr778Ile
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16398
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/7-128852264-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852264
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852264
    reference: chr 7
allele count: 1
allele frequency: 8.490117503226245e-6
allele num: 117784
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+994T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.2336A>C
  hgvsp: ENSP00000249373.3:p.Glu779Ala
  variant of: http://identifiers.org/hgnc/11119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
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genotype quality: GenotypeQuality
  all individuals: 1795
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu779Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 884
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

7-128852265-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852265
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852265
    reference: chr 7
allele count: 1
allele frequency: 8.496609852668785e-6
allele num: 117694
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+993T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.2337A>G
  hgvsp: ENST00000249373.3:c.2337A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11119
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45403
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu779Glu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8542
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

7-128852270-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852270
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852270
    reference: chr 7
allele count: 4
allele frequency: 3.408083975189148e-5
allele num: 117368
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.2342T>C
  hgvsp: ENSP00000249373.3:p.Met781Thr
  variant of: http://identifiers.org/hgnc/11119
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+988A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  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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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45212
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met781Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 882
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

7-128852283-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852283
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852283
    reference: chr 7
allele count: 22
allele frequency: 1.89599600117207e-4
allele num: 116034
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.2355G>A
  hgvsp: ENST00000249373.3:c.2355G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11119
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+975C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 40071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 6097
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genotype quality: GenotypeQuality
  all individuals: 300
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 304
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genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser785Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 7
  allele frequency: 1.102396925887429e-4
  allele num: 63498
  num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/7-128852289-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852289
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852289
    reference: chr 7
allele count: 2
allele frequency: 1.730014013113506e-5
allele num: 115606
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+969G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.2361C>A
  hgvsp: ENSP00000249373.3:p.Phe787Leu
  variant of: http://identifiers.org/hgnc/11119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1660
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6066
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 302
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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: 44021
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 263
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genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 2.25e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe787Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8956
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

7-128852297-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852297
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852297
    reference: chr 7
allele count: 1
allele frequency: 8.709739230407442e-6
allele num: 114814
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+961C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.*5G>A
  variant of: http://identifiers.org/hgnc/11119
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
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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
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 3564
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genotype quality: GenotypeQuality
  all individuals: 172
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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: 302
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 302
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 78
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8494
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

7-128852297-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852297
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852297
    reference: chr 7
allele count: 6
allele frequency: 5.225843538244465e-5
allele num: 114814
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.*5G>T
  variant of: http://identifiers.org/hgnc/11119
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+961C>A
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39134
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11426
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

7-128852300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852300
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852300
    reference: chr 7
allele count: 1
allele frequency: 8.728288382648164e-6
allele num: 114570
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.*8G>A
  variant of: http://identifiers.org/hgnc/11119
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+958C>T
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5944
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15440
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

7-128852301-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852301
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852301
    reference: chr 7
allele count: 2
allele frequency: 1.746999528310127e-5
allele num: 114482
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.*9A>G
  variant of: http://identifiers.org/hgnc/11119
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+957T>C
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42762
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 164
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11414
  num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

7-128852305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852305
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852305
    reference: chr 7
allele count: 2
allele frequency: 1.755032555853911e-5
allele num: 113958
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+953C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.*13G>A
  variant of: http://identifiers.org/hgnc/11119
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
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genotype quality: GenotypeQuality
  all individuals: 1961
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 586
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 4261
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genotype quality: GenotypeQuality
  all individuals: 303
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6602
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/7-128852323-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852323
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852323
    reference: chr 7
allele count: 3
allele frequency: 2.675465976990993e-5
allele num: 112130
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.*31A>C
  variant of: http://identifiers.org/hgnc/11119
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+935T>G
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 7.5e0
  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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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38637
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5599
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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: 1941
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genotype quality: GenotypeQuality
  all individuals: 196
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 99
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  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11378
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

7-128852324-G-GAGGAACCAAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852324
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852334
    reference: chr 7
allele count: 1
allele frequency: 8.919015340706385e-6
allele num: 112120
alternate allele: GAGGAACCAAT
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  variant of: http://identifiers.org/hgnc/11119
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11380
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 832
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-128852328-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852328
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852328
    reference: chr 7
allele count: 14
allele frequency: 1.254053279349326e-4
allele num: 111638
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+930T>C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.*36A>G
  variant of: http://identifiers.org/hgnc/11119
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34879
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5080
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 3
  allele frequency: 3.507951356407858e-4
  allele num: 8552
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

7-128852331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852331
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852331
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 110736
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+927G>A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.*39C>T
  variant of: http://identifiers.org/hgnc/11119
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5418
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11354
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

7-128852332-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852332
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852332
    reference: chr 7
allele count: 3
allele frequency: 2.705432508477022e-5
allele num: 110888
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.*40A>G
  variant of: http://identifiers.org/hgnc/11119
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+926T>C
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33714
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5433
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8488
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum

7-128852334-TAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852334
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852332
    reference: chr 7
allele count: 1
allele frequency: 9.033423667570008e-6
allele num: 110700
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.*43_*44delAC
  variant of: http://identifiers.org/hgnc/11119
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+922_129+923delGT
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
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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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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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  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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 701
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11348
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: TAC
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

7-128852335-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852335
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852335
    reference: chr 7
allele count: 1
allele frequency: 9.075398409990198e-6
allele num: 110188
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+923T>C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.*43A>G
  variant of: http://identifiers.org/hgnc/11119
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  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
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  bin: 3.75e1
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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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  bin: 8.25e1
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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: 297
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34121
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 61348
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-128852336-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852336
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852336
    reference: chr 7
allele count: 6
allele frequency: 5.449393300879169e-5
allele num: 110104
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.*44C>A
  variant of: http://identifiers.org/hgnc/11119
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+922G>T
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  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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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1900
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  variant carriers: 0
genotype quality: GenotypeQuality
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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
  all individuals: 1860
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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: 1670
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6588
  num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

7-128852341-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852341
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128852341
    reference: chr 7
allele count: 10
allele frequency: 9.15650294839395e-5
allele num: 109212
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000128602
  ensembl protein: ENSP00000249373
  ensembl transcript: ENST00000249373
  gene symbol: SMO
  hgvsc: ENST00000249373.3:c.*49A>G
  variant of: http://identifiers.org/hgnc/11119
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243230
  ensembl transcript: ENST00000466717
  gene symbol: RP11-286H14.8
  hgvsc: ENST00000466717.1:n.129+917T>C
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
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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: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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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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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  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
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 2.25e1
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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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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11310
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/7-128864874-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864874
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864874
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 29576
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.-44A>C
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26918
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  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
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
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  bin: 4.25e1
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  bin: 6.75e1
  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
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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
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8442
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2710
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14974
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

7-128864876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864876
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864876
    reference: chr 7
allele count: 1
allele frequency: 3.393741939862893e-5
allele num: 29466
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.-42C>T
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
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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 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
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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
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2712
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population: South Asian
  type: Population
  allele count: 0
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  allele num: 8446
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population: East Asian
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  allele num: 1534
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/7-128864877-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864877
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864877
    reference: chr 7
allele count: 1
allele frequency: 3.377465549851391e-5
allele num: 29608
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.-41A>C
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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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
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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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num of homozygotes: 0
population: Latino
  type: Population
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  allele num: 1118
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population: European (Non-Finnish)
  type: Population
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  allele frequency: 6.684491978609626e-5
  allele num: 14960
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population: East Asian
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  allele frequency: 0.0e0
  allele num: 1562
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

7-128864877-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864877
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864877
    reference: chr 7
allele count: 6
allele frequency: 2.026479329910835e-4
allele num: 29608
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.-41A>T
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1033
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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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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 554
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population: South Asian
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  allele frequency: 7.097232079489e-4
  allele num: 8454
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population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14960
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
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site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

7-128864878-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864878
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864878
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 29744
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.-40G>A
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
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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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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15064
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2722
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8466
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

7-128864879-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864879
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864879
    reference: chr 7
allele count: 1
allele frequency: 3.348064818534887e-5
allele num: 29868
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.-39G>C
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17038
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4885
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5234
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15160
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1136
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 552
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

7-128864881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864881
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864881
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 29794
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.-37G>A
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27739
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21074
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4717
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14073
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4947
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1572
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 246
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 548
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-128864895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864895
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864895
    reference: chr 7
allele count: 3
allele frequency: 9.561448240693524e-5
allele num: 31376
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.-23C>T
  variant of: http://identifiers.org/hgnc/22204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000413639
  ensembl transcript: ENST00000446544
  gene symbol: AHCYL2
  hgvsc: ENST00000446544.2:c.-23C>T
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
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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
  all individuals: 7227
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30234
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26730
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  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
  all individuals: 2892
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6077
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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: 202
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 1.862428606903402e-4
  allele num: 16108
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

7-128864896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864896
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864896
    reference: chr 7
allele count: 2
allele frequency: 6.317119393556538e-5
allele num: 31660
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.-22G>A
  variant of: http://identifiers.org/hgnc/22204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000413639
  ensembl transcript: ENST00000446544
  gene symbol: AHCYL2
  hgvsc: ENST00000446544.2:c.-22G>A
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  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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  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: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 3.25e1
  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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  bin: 9.75e1
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
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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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  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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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 207
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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: 201
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 618
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-128864903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864903
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864903
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 33274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000413639
  ensembl transcript: ENST00000446544
  gene symbol: AHCYL2
  hgvsc: ENST00000446544.2:c.-15G>A
  variant of: http://identifiers.org/hgnc/22204
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.-15G>A
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
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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  bin: 7.25e1
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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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  bin: 6.25e1
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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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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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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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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.75e1
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2938
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD

7-128864905-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864905
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864905
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 33844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000413639
  ensembl transcript: ENST00000446544
  gene symbol: AHCYL2
  hgvsc: ENST00000446544.2:c.-13A>G
  variant of: http://identifiers.org/hgnc/22204
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.-13A>G
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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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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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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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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  bin: 3.75e1
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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
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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
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  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 664
  num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

7-128864905-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864905
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864905
    reference: chr 7
allele count: 1
allele frequency: 2.95473348303983e-5
allele num: 33844
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.-13A>T
  variant of: http://identifiers.org/hgnc/22204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000413639
  ensembl transcript: ENST00000446544
  gene symbol: AHCYL2
  hgvsc: ENST00000446544.2:c.-13A>T
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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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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  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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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1532
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

7-128864914-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864914
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864914
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 35898
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.-4G>C
  variant of: http://identifiers.org/hgnc/22204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000413639
  ensembl transcript: ENST00000446544
  gene symbol: AHCYL2
  hgvsc: ENST00000446544.2:c.-4G>C
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 2.5e0
  variant carriers: 0
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
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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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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1910
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

7-128864915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864915
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864915
    reference: chr 7
allele count: 1
allele frequency: 2.737026494416466e-5
allele num: 36536
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.-3G>A
  variant of: http://identifiers.org/hgnc/22204
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000413639
  ensembl transcript: ENST00000446544
  gene symbol: AHCYL2
  hgvsc: ENST00000446544.2:c.-3G>A
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  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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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7558
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9343
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 741
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 574
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-128864921-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864921
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864921
    reference: chr 7
allele count: 1
allele frequency: 2.569637167231987e-5
allele num: 38916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000413639
  ensembl transcript: ENST00000446544
  gene symbol: AHCYL2
  hgvsc: ENST00000446544.2:c.4T>A
  hgvsp: ENSP00000413639.2:p.Ser2Thr
  variant of: http://identifiers.org/hgnc/22204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.4T>A
  hgvsp: ENSP00000315931.3:p.Ser2Thr
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31422
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7022
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30284
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 206
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8552
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser2Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2512
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

7-128864923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864923
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864923
    reference: chr 7
allele count: 5
allele frequency: 1.252254057303146e-4
allele num: 39928
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.6G>A
  hgvsp: ENST00000325006.3:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000413639
  ensembl transcript: ENST00000446544
  gene symbol: AHCYL2
  hgvsc: ENST00000446544.2:c.6G>A
  hgvsp: ENST00000446544.2:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1965
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 3.75e1
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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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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser2Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 278
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

7-128864923-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864923
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864923
    reference: chr 7
allele count: 3
allele frequency: 7.513524343818873e-5
allele num: 39928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000413639
  ensembl transcript: ENST00000446544
  gene symbol: AHCYL2
  hgvsc: ENST00000446544.2:c.6G>C
  hgvsp: ENST00000446544.2:c.6G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22204
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.6G>C
  hgvsp: ENST00000325006.3:c.6G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31168
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9505
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 157
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 287
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genotype quality: GenotypeQuality
  all individuals: 76
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genotype quality: GenotypeQuality
  all individuals: 1965
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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: 1444
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 27
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genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser2Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2610
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS

7-128864928-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864928
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864928
    reference: chr 7
allele count: 1
allele frequency: 2.382427216848525e-5
allele num: 41974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000413639
  ensembl transcript: ENST00000446544
  gene symbol: AHCYL2
  hgvsc: ENST00000446544.2:c.11A>G
  hgvsp: ENSP00000413639.2:p.Gln4Arg
  variant of: http://identifiers.org/hgnc/22204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.11A>G
  hgvsp: ENSP00000315931.3:p.Gln4Arg
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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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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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  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
  all individuals: 2
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7672
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln4Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2692
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

7-128864931-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864931
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864931
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 43266
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.14T>C
  hgvsp: ENSP00000315931.3:p.Val5Ala
  variant of: http://identifiers.org/hgnc/22204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000413639
  ensembl transcript: ENST00000446544
  gene symbol: AHCYL2
  hgvsc: ENST00000446544.2:c.14T>C
  hgvsp: ENSP00000413639.2:p.Val5Ala
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30385
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29920
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val5Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 23494
  num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

7-128864940-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864940
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864940
    reference: chr 7
allele count: 3
allele frequency: 6.698222738233455e-5
allele num: 44788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000413639
  ensembl transcript: ENST00000446544
  gene symbol: AHCYL2
  hgvsc: ENST00000446544.2:c.23C>G
  hgvsp: ENSP00000413639.2:p.Ala8Gly
  variant of: http://identifiers.org/hgnc/22204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.23C>G
  hgvsp: ENSP00000315931.3:p.Ala8Gly
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6826
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala8Gly
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 4.089979550102249e-5
  allele num: 24450
  num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ

2-179517310-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517310
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517310
    reference: chr 2
allele count: 1
allele frequency: 8.372124175345769e-6
allele num: 119444
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10266T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8082A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15885A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10266T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108357A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10266T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-42T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10266T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15885A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54902A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-42T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39044-42T>C
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38667
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-179517310-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517310
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517310
    reference: chr 2
allele count: 2
allele frequency: 1.674424835069154e-5
allele num: 119444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-42T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54902A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10266T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108357A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-42T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8082A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10266T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15885A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10266T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39044-42T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10266T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15885A>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38667
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-179517311-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517311
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517311
    reference: chr 2
allele count: 1
allele frequency: 8.370862701109976e-6
allele num: 119462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8083C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10267G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108356C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10267G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54903C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15886C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10267G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-43G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10267G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-43G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39044-43G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15886C>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38667
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-179517313-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517313
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517313
    reference: chr 2
allele count: 3
allele frequency: 2.511595197829982e-5
allele num: 119446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-45T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10269T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108354A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15888A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8085A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-45T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10269T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10269T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15888A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54905A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39044-45T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10269T>G
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38667
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

2-179517313-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517313
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517313
    reference: chr 2
allele count: 1
allele frequency: 8.371983992766606e-6
allele num: 119446
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54905A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10269T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-45T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15888A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10269T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39044-45T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10269T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8085A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108354A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10269T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15888A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-45T>C
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38667
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-179517314-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517314
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517314
    reference: chr 2
allele count: 2
allele frequency: 1.674593073883047e-5
allele num: 119432
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10270A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10270A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15889T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39044-46A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10270A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108353T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8086T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-46A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-46A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15889T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10270A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54906T>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38667
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

2-179517338-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517338
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517338
    reference: chr 2
allele count: 1
allele frequency: 8.417933565668301e-6
allele num: 118794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10294C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108329G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15913G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10294C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10294C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54930G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8110G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15913G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-70C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39043+42C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10294C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-70C>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34979
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

7-128864945-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864945
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864945
    reference: chr 7
allele count: 1
allele frequency: 2.094679514034353e-5
allele num: 47740
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.28G>A
  hgvsp: ENSP00000315931.3:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/22204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000413639
  ensembl transcript: ENST00000446544
  gene symbol: AHCYL2
  hgvsc: ENST00000446544.2:c.28G>A
  hgvsp: ENSP00000413639.2:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6501
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29355
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala10Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3366
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

7-128864947-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864947
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864947
    reference: chr 7
allele count: 1
allele frequency: 2.04256709832918e-5
allele num: 48958
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.30T>C
  hgvsp: ENST00000325006.3:c.30T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000413639
  ensembl transcript: ENST00000446544
  gene symbol: AHCYL2
  hgvsc: ENST00000446544.2:c.30T>C
  hgvsp: ENST00000446544.2:c.30T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6051
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala10Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9802
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

7-128864950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128864950
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 128864950
    reference: chr 7
allele count: 1
allele frequency: 1.98704447005524e-5
allele num: 50326
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000315931
  ensembl transcript: ENST00000325006
  gene symbol: AHCYL2
  hgvsc: ENST00000325006.3:c.33C>T
  hgvsp: ENST00000325006.3:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158467
  ensembl protein: ENSP00000413639
  ensembl transcript: ENST00000446544
  gene symbol: AHCYL2
  hgvsc: ENST00000446544.2:c.33C>T
  hgvsp: ENST00000446544.2:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22204
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5443
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala11Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 3.593761230503845e-5
  allele num: 27826
  num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

2-179517340-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517340
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517340
    reference: chr 2
allele count: 4
allele frequency: 3.367853835143555e-5
allele num: 118770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10296T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10296T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39043+40T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54932A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10296T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15915A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-72T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8112A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-72T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108327A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10296T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15915A>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34979
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-179517344-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517344
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517344
    reference: chr 2
allele count: 2
allele frequency: 1.685203909673071e-5
allele num: 118680
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39043+36T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10300T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15919A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108323A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15919A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-76T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8116A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10300T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10300T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-76T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10300T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54936A>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34979
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

2-179517346-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517346
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517346
    reference: chr 2
allele count: 2
allele frequency: 1.686539726443256e-5
allele num: 118586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15921A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15921A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8118A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39043+34T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54938A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10302T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10302T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108321A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-78T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10302T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-78T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10302T>C
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34979
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-179517348-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517348
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517348
    reference: chr 2
allele count: 501
allele frequency: 4.225708502024292e-3
allele num: 118560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10304T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108319A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-80T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15923A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10304T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8120A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10304T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15923A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39043+32T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10304T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54940A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-80T>C
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 6.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 9.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 7.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 35029
  bin: 9.75e1
  variant carriers: 324
genotype quality: GenotypeQuality
num of homozygotes: 7
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-179517357-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517357
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517357
    reference: chr 2
allele count: 1
allele frequency: 8.450799445627557e-6
allele num: 118332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54949C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15932C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10313G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8129C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10313G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15932C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39043+23G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10313G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10313G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108310C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-89G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-89G>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34906
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

2-179517357-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517357
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517357
    reference: chr 2
allele count: 9
allele frequency: 7.6057195010648e-5
allele num: 118332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108310C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54949C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15932C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10313G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10313G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8129C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10313G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-89G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10313G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-89G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15932C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39043+23G>A
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34906
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

2-179517358-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517358
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517358
    reference: chr 2
allele count: 1
allele frequency: 8.449085808915476e-6
allele num: 118356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15933G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8130G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10314C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10314C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108309G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15933G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10314C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-90C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39043+22C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54950G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10314C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-90C>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34903
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

2-179517369-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517369
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517369
    reference: chr 2
allele count: 2
allele frequency: 1.692476940001693e-5
allele num: 118170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8141A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10325T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54961A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39043+11T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10325T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-101T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10325T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15944A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10325T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15944A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-101T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108298A>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34903
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

2-179517369-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517369
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517369
    reference: chr 2
allele count: 1
allele frequency: 8.462384700008463e-6
allele num: 118170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10325T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-101T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8141A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108298A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-101T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54961A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10325T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10325T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15944A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39043+11T>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15944A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10325T>A
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34903
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/2-179517386-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517386
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517386
    reference: chr 2
allele count: 1
allele frequency: 8.492569002123141e-6
allele num: 117750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108281C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54978C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10342G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15961C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10342G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15961C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10342G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10342G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39037G>T
  hgvsp: ENSP00000467141.1:p.Val13013Phe
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8158C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-118G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-118G>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34903
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val13013Phe
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

2-179517386-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517386
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517386
    reference: chr 2
allele count: 1
allele frequency: 8.492569002123141e-6
allele num: 117750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108281C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10342G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10342G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-118G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15961C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8158C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54978C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15961C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39037G>A
  hgvsp: ENSP00000467141.1:p.Val13013Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10342G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10342G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-118G>A
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34903
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val13013Ile
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

2-179517388-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517388
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517388
    reference: chr 2
allele count: 3
allele frequency: 2.548290097344682e-5
allele num: 117726
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39035C>T
  hgvsp: ENSP00000467141.1:p.Pro13012Leu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108279G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8160G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54980G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10344C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10344C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-120C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-120C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10344C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10344C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15963G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15963G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34902
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro13012Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

2-179517390-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517390
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517390
    reference: chr 2
allele count: 5
allele frequency: 4.249243634633035e-5
allele num: 117668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10346A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10346A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10346A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8162T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10346A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-122A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108277T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39033A>T
  hgvsp: ENST00000589042.1:c.39033A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54982T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-122A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15965T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15965T>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34902
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Pro13011Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-179517403-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517403
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517403
    reference: chr 2
allele count: 12
allele frequency: 1.020442872206538e-4
allele num: 117596
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10359A>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10359A>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15978T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39020A>C
  hgvsp: ENSP00000467141.1:p.Lys13007Thr
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+54995T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8175T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108264T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-135A>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10359A>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15978T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10359A>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-135A>C
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34905
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
hgvs: p.Lys13007Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

2-179517410-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517410
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517410
    reference: chr 2
allele count: 3
allele frequency: 2.551931812381973e-5
allele num: 117558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10366C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15985G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10366C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8182G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39013C>T
  hgvsp: ENSP00000467141.1:p.Pro13005Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108257G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+55002G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-142C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10366C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10366C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-142C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15985G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34902
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro13005Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

2-179517413-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517413
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517413
    reference: chr 2
allele count: 3
allele frequency: 2.551584533995611e-5
allele num: 117574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15988G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-145C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10369C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15988G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10369C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10369C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39010C>T
  hgvsp: ENSP00000467141.1:p.Pro13004Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8185G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-145C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108254G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10369C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+55005G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34902
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro13004Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-179517416-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517416
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517416
    reference: chr 2
allele count: 1
allele frequency: 8.506294658046955e-6
allele num: 117560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10372G>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-148G>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10372G>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+55008C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15991C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-148G>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8188C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10372G>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39007G>C
  hgvsp: ENSP00000467141.1:p.Ala13003Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10372G>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108251C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15991C>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34901
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala13003Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-179517417-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517417
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517417
    reference: chr 2
allele count: 112
allele frequency: 9.527050017012589e-4
allele num: 117560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10373G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10373G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10373G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15992C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39006G>T
  hgvsp: ENST00000589042.1:c.39006G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-149G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-149G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10373G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15992C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108250C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8189C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+55009C>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34928
  bin: 9.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser13002Ser
num of homozygotes: 2
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

2-179517417-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517417
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517417
    reference: chr 2
allele count: 2
allele frequency: 1.701258931609391e-5
allele num: 117560
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39006G>A
  hgvsp: ENST00000589042.1:c.39006G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8189C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-149G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+55009C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10373G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108250C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10373G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10373G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15992C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-149G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15992C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10373G>A
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34928
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser13002Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-179517418-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517418
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517418
    reference: chr 2
allele count: 8
allele frequency: 6.807120247779177e-5
allele num: 117524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+55010G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-150C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10374C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10374C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39005C>T
  hgvsp: ENSP00000467141.1:p.Ser13002Leu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10374C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108249G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-150C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8190G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10374C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15993G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15993G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34885
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser13002Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-179517420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517420
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517420
    reference: chr 2
allele count: 1
allele frequency: 8.507018290089324e-6
allele num: 117550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+55012G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.39003C>T
  hgvsp: ENST00000589042.1:c.39003C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108247G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-152C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10376C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10376C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10376C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+15995G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8192G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+15995G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10376C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-152C>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro13001Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-179517425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179517425
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179517425
    reference: chr 2
allele count: 8
allele frequency: 6.806077827499958e-5
allele num: 117542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.34523-157G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589487
  gene symbol: TTN-AS1
  hgvsc: ENST00000589487.1:n.318+8197C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000401501
  ensembl transcript: ENST00000414766
  gene symbol: TTN
  hgvsc: ENST00000414766.1:c.2441-10381G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-108242C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13283-10381G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.31742-157G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.124+16000C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.38998G>A
  hgvsp: ENSP00000467141.1:p.Val13000Met
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13859-10381G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.211+16000C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13658-10381G>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.519+55017C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34880
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val13000Met
num of homozygotes: 0
reference allele: C

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.097413659594239e-5
allele num: 64570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.55e-1

FS
type: SiteQuality
SIO_000300: 4.052e0

MQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.607e0

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

DP
type: SiteQuality
SIO_000300: 1.395021e6

QD
type: SiteQuality
SIO_000300: 1.009e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.652894100130281e-5
allele num: 64476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.092e0

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.183e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.197e1

DP
type: SiteQuality
SIO_000300: 1.393211e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.106497313141182e-5
allele num: 16376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64410
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9468
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.391231e6

MQRankSum
type: SiteQuality
SIO_000300: -1.05e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.195e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554001554001554e-5
allele num: 64350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.238e1

FS
type: SiteQuality
SIO_000300: 3.896e0

VQSLOD
type: SiteQuality
SIO_000300: -1.157e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.274e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e0

MQRankSum
type: SiteQuality
SIO_000300: 9.64e-1

DP
type: SiteQuality
SIO_000300: 1.39013e6

Latino
type: Population
allele count: 1
allele frequency: 8.707767328456984e-5
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64182
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.205813207950417e-4
allele num: 9358
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.485e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-2

DP
type: SiteQuality
SIO_000300: 1.386648e6

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.203e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16036
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 15
allele frequency: 2.270663033605813e-3
allele num: 6606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 1.373017e6

FS
type: SiteQuality
SIO_000300: 1.328e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.92e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.158160687215766e-5
allele num: 63328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.949e0

DP
type: SiteQuality
SIO_000300: 1.365761e6

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.586697131251587e-5
allele num: 63024
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.353236e6

QD
type: SiteQuality
SIO_000300: 1.116e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

South Asian
type: Population
allele count: 6
allele frequency: 3.860507013254407e-4
allele num: 15542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

QD
type: SiteQuality
SIO_000300: 1.116e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.353236e6

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.13455865668255e-4
allele num: 8814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62934
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.259e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.495e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 1.348286e6

QD
type: SiteQuality
SIO_000300: 1.043e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8812
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15376
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.178740582981023e-5
allele num: 62918
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.889e0

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

QD
type: SiteQuality
SIO_000300: 1.396e1

DP
type: SiteQuality
SIO_000300: 1.345984e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.188063888800331e-5
allele num: 62734
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15124
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.73e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.335238e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14268
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.837149306675266e-5
allele num: 62020
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.113e1

FS
type: SiteQuality
SIO_000300: 5.037e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

DP
type: SiteQuality
SIO_000300: 1.293209e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.801e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.56e-1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.612383102225089e-5
allele num: 62020
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.28e0

MQRankSum
type: SiteQuality
SIO_000300: -5.49e0

MQ
type: SiteQuality
SIO_000300: 5.078e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

DP
type: SiteQuality
SIO_000300: 1.293127e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.778668908867473e-4
allele num: 61844
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: 8398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14052
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

DP
type: SiteQuality
SIO_000300: 1.284217e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

QD
type: SiteQuality
SIO_000300: 1.593e1

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.739e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

QD
type: SiteQuality
SIO_000300: 1.296e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.422e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.368e0

DP
type: SiteQuality
SIO_000300: 1.273424e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.579098067287044e-4
allele num: 8382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

DP
type: SiteQuality
SIO_000300: 1.273047e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.61e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

QD
type: SiteQuality
SIO_000300: 1.365e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 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: 8376
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.374631268436578e-5
allele num: 13560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61536
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

QD
type: SiteQuality
SIO_000300: 1.576e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.384e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQ
type: SiteQuality
SIO_000300: 6.06e1

DP
type: SiteQuality
SIO_000300: 1.270487e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.508634930169695e-5
allele num: 13318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.270147e6

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.205e0

QD
type: SiteQuality
SIO_000300: 1.539e1

MQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

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

African
type: Population
allele count: 6
allele frequency: 7.097232079489e-4
allele num: 8454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61370
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.388e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.454e0

DP
type: SiteQuality
SIO_000300: 1.268674e6

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61044
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.190759704691593e-3
allele num: 8398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.273641e6

QD
type: SiteQuality
SIO_000300: 1.605e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

FS
type: SiteQuality
SIO_000300: 2.068e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.537e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.16e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.641e0

QD
type: SiteQuality
SIO_000300: 6.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 5.53248e5

MQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.725854183481302e-5
allele num: 14868
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.268e0

VQSLOD
type: SiteQuality
SIO_000300: -1.644e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.451e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.268e0

DP
type: SiteQuality
SIO_000300: 5.5585e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.21e-2

QD
type: SiteQuality
SIO_000300: 1.787e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.57185e5

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.77e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

QD
type: SiteQuality
SIO_000300: 1.586e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.57185e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

QD
type: SiteQuality
SIO_000300: 1.586e1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.77e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.58602e5

QD
type: SiteQuality
SIO_000300: 1.348e1

MQ
type: SiteQuality
SIO_000300: 5.739e1

VQSLOD
type: SiteQuality
SIO_000300: -1.187e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1566
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.654970760233918e-4
allele num: 2736
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

MQ
type: SiteQuality
SIO_000300: 5.833e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 5.60061e5

VQSLOD
type: SiteQuality
SIO_000300: -1.883e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.05e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.13e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15118
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.09e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.414e-1

QD
type: SiteQuality
SIO_000300: 1.159e1

MQ
type: SiteQuality
SIO_000300: 5.79e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.6265e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.683e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2818
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1728
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.652e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-2

QD
type: SiteQuality
SIO_000300: 1.141e1

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.93795e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 7.047216349541931e-4
allele num: 2838
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.093e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 5.9784e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.73e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17302
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1924
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 6.12023e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.139e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2990
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.18806e5

FS
type: SiteQuality
SIO_000300: 3.585e0

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.07e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.409e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

MQ
type: SiteQuality
SIO_000300: 5.887e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.655468838366701e-5
allele num: 17682
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.18806e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.07e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

FS
type: SiteQuality
SIO_000300: 3.585e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.404e1

VQSLOD
type: SiteQuality
SIO_000300: -4.409e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8964
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-2

DP
type: SiteQuality
SIO_000300: 6.40594e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: 6.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

FS
type: SiteQuality
SIO_000300: 5.229e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19296
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.112594570538496e-4
allele num: 8988
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1958
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2344
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FS
type: SiteQuality
SIO_000300: 6.638e0

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.324e0

VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

DP
type: SiteQuality
SIO_000300: 6.43655e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.11e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.59e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3264
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.807692307692308e-5
allele num: 20800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2260
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.18e-2

QD
type: SiteQuality
SIO_000300: 8.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 6.154e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.073e0

DP
type: SiteQuality
SIO_000300: 6.66116e5

MQRankSum
type: SiteQuality
SIO_000300: -1.073e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 5
allele frequency: 5.432420686657974e-4
allele num: 9204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2416
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.79e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: 3.84e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

FS
type: SiteQuality
SIO_000300: 4.03e0

DP
type: SiteQuality
SIO_000300: 6.77426e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3310
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.241721854304636e-3
allele num: 2416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
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QD
type: SiteQuality
SIO_000300: 1.221e1

MQ
type: SiteQuality
SIO_000300: 5.937e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: 3.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.79e-2

DP
type: SiteQuality
SIO_000300: 6.77426e5

FS
type: SiteQuality
SIO_000300: 4.03e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.404122258433894e-5
allele num: 22706
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3382
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2828
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

FS
type: SiteQuality
SIO_000300: 6.41e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.71e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.537e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 6.94972e5

QD
type: SiteQuality
SIO_000300: 5.8e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2952
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 7.05366e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.65e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

QD
type: SiteQuality
SIO_000300: 1.406e1

Latino
type: Population
allele count: 1
allele frequency: 3.272251308900524e-4
allele num: 3056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

African
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allele count: 1
allele frequency: 2.881844380403458e-4
allele num: 3470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3140
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

DP
type: SiteQuality
SIO_000300: 7.2124e5

VQSLOD
type: SiteQuality
SIO_000300: -3.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65876
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

FS
type: SiteQuality
SIO_000300: 1.417e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.574e0

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 6.690649e6

QD
type: SiteQuality
SIO_000300: 1.587e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

GenotypeDepth
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.036007043536341e-5
allele num: 65876
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

QD
type: SiteQuality
SIO_000300: 1.587e1

DP
type: SiteQuality
SIO_000300: 6.690649e6

FS
type: SiteQuality
SIO_000300: 1.417e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.574e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

GenotypeDepth
all individuals: 1962
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
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variant carriers: 0

GenotypeQuality
all individuals: 279
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 256
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517819197377208e-5
allele num: 65884
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

DP
type: SiteQuality
SIO_000300: 6.690698e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.632e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 1.928e0

VQSLOD
type: SiteQuality
SIO_000300: 8.56e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

GenotypeDepth
all individuals: 1787
bin: 7.25e1
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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GenotypeQuality
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 185
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GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 3
allele frequency: 3.169237270230298e-4
allele num: 9466
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65878
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 5.8e-3

FS
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.690543e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.61e1

GenotypeDepth
all individuals: 2414
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 1.056412423410099e-4
allele num: 9466
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65878
num of homozygotes: 0

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

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

Other
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MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

VQSLOD
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.61e1

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.035914872946963e-5
allele num: 65878
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

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

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

South Asian
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QD
type: SiteQuality
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BaseQRankSum
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1804
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GenotypeQuality
all individuals: 419
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 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: 892
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65378
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9330
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.476e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 6.20088e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.9e0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3742
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3370
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.814173468609352e-5
allele num: 26218
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.824e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.76e-1

QD
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SIO_000300: 1.002e1

BaseQRankSum
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SIO_000300: -9.12e-1

VQSLOD
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SIO_000300: -3.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.416e0

DP
type: SiteQuality
SIO_000300: 7.45533e5

European (Non-Finnish)
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allele count: 1
allele frequency: 3.708373507379664e-5
allele num: 26966
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3502
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3816
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1022
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.56608e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.8402e1

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

BaseQRankSum
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SIO_000300: -1.89e0

QD
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SIO_000300: 1.445e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQ
type: SiteQuality
SIO_000300: 5.766e1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3934
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3608
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3672
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

FS
type: SiteQuality
SIO_000300: 9.276e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

DP
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SIO_000300: 7.73108e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.68e0

VQSLOD
type: SiteQuality
SIO_000300: -1.952e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65364
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 2.423361201987156e-4
allele num: 16506
num of homozygotes: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.97e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 2.488e1

FS
type: SiteQuality
SIO_000300: 5.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.822e0

DP
type: SiteQuality
SIO_000300: 6.200673e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.063068582105553e-5
allele num: 65294
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 1.021e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.552e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.87e1

DP
type: SiteQuality
SIO_000300: 6.199404e6

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.06569790612833e-5
allele num: 65238
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.672e0

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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MQ
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DP
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QD
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SIO_000300: 1.839e1

BaseQRankSum
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ClippingRankSum
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SIO_000300: 6.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.259e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

GenotypeDepth
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variant carriers: 2

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

East Asian
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allele count: 2
allele frequency: 2.326663564448581e-4
allele num: 8596
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.067202404686685e-5
allele num: 65206
num of homozygotes: 0

Latino
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allele frequency: 1.740644038294169e-4
allele num: 11490
num of homozygotes: 0

African
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allele count: 13
allele frequency: 1.403887688984881e-3
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num of homozygotes: 0

South Asian
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allele frequency: 2.914091845389555e-2
allele num: 16506
num of homozygotes: 7

Other
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allele frequency: 1.121076233183856e-3
allele num: 892
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InbreedingCoeff
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DP
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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FS
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.08e-1

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

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

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

European (Non-Finnish)
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allele num: 65050
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European (Finnish)
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East Asian
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VQSLOD
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DP
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 53064
bin: 9.75e1
variant carriers: 9

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.611837048424289e-5
allele num: 65050
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.087192868014786e-4
allele num: 9198
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.818012566907144e-4
allele num: 8594
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 5.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

QD
type: SiteQuality
SIO_000300: 1.431e1

MQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

DP
type: SiteQuality
SIO_000300: 6.185965e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.356e0

VQSLOD
type: SiteQuality
SIO_000300: 2.38e0

GenotypeDepth
all individuals: 1442
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537184492882836e-5
allele num: 65054
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

DP
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SIO_000300: 6.18548e6

FS
type: SiteQuality
SIO_000300: 2.788e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 1.323e1

GenotypeDepth
all individuals: 1409
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
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: 620
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GenotypeQuality
all individuals: 52
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740947075208914e-4
allele num: 11488
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64928
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9162
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.95e-1

FS
type: SiteQuality
SIO_000300: 1.237e0

BaseQRankSum
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SIO_000300: 5.16e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 6.184058e6

QD
type: SiteQuality
SIO_000300: 1.225e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-2

GenotypeDepth
all individuals: 528
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variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
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variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1733
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variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53062
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 96
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540167570231641e-5
allele num: 64928
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-2

FS
type: SiteQuality
SIO_000300: 1.237e0

VQSLOD
type: SiteQuality
SIO_000300: 9.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.16e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 6.184058e6

QD
type: SiteQuality
SIO_000300: 1.225e1

GenotypeDepth
all individuals: 2084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
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variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 806
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variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
all individuals: 656
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variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1683
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 738
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 53065
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54659902873581e-5
allele num: 64658
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

FS
type: SiteQuality
SIO_000300: 8.145e0

QD
type: SiteQuality
SIO_000300: 1.246e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

DP
type: SiteQuality
SIO_000300: 6.180853e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9008
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.54659902873581e-5
allele num: 64658
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.246e1

InbreedingCoeff
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
type: SiteQuality
SIO_000300: 6.180853e6

FS
type: SiteQuality
SIO_000300: 8.145e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-2

ReadPosRankSum
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SIO_000300: 1.88e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.641089108910891e-5
allele num: 64640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

MQ
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ClippingRankSum
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DP
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.162e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 94
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GenotypeQuality
all individuals: 101
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GenotypeQuality
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GenotypeQuality
all individuals: 53061
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 659
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.739219267560288e-5
allele num: 64606
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

DP
type: SiteQuality
SIO_000300: 6.180519e6

QD
type: SiteQuality
SIO_000300: 7.54e0

BaseQRankSum
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SIO_000300: 5.44e0

VQSLOD
type: SiteQuality
SIO_000300: -8.442e-1

FS
type: SiteQuality
SIO_000300: 1.261e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e0

GenotypeDepth
all individuals: 1230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 12

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1701
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64546
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

South Asian
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allele count: 12
allele frequency: 7.273608922293612e-4
allele num: 16498
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.713e0

DP
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SIO_000300: 6.180859e6

QD
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SIO_000300: 1.271e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
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SIO_000300: -8.0e-4

ReadPosRankSum
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SIO_000300: 3.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

GenotypeDepth
all individuals: 1202
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variant carriers: 0

GenotypeQuality
all individuals: 431
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.648136097424932e-5
allele num: 64542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8934
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.513e1

MQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

VQSLOD
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SIO_000300: 8.77e-1

DP
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SIO_000300: 6.179575e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

FS
type: SiteQuality
SIO_000300: 3.237e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.988e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.237e0

GenotypeDepth
all individuals: 1409
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variant carriers: 0

GenotypeQuality
all individuals: 789
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.647560030983733e-5
allele num: 64550
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8946
num of homozygotes: 0

European (Finnish)
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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
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.201e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.987e1

DP
type: SiteQuality
SIO_000300: 6.179708e6

MQRankSum
type: SiteQuality
SIO_000300: -4.94e-1

QD
type: SiteQuality
SIO_000300: 1.441e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.144e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.67e-1

GenotypeDepth
all individuals: 1313
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
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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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GenotypeQuality
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GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 655
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.117568171658471e-4
allele num: 8948
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.199e0

ReadPosRankSum
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MQRankSum
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MQ
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DP
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SIO_000300: 6.179569e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

BaseQRankSum
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SIO_000300: 6.63e-1

QD
type: SiteQuality
SIO_000300: 7.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 110

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8946
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

Other
type: Population
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allele num: 890
num of homozygotes: 0

South Asian
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allele count: 111
allele frequency: 6.730536017463012e-3
allele num: 16492
num of homozygotes: 2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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FS
type: SiteQuality
SIO_000300: 5.21e-1

QD
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DP
type: SiteQuality
SIO_000300: 6.185832e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

VQSLOD
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GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.549426712116517e-5
allele num: 64540
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.11781801922647e-4
allele num: 8946
num of homozygotes: 0

Other
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Latino
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European (Finnish)
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FS
type: SiteQuality
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DP
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VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 1

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21300339640951e-4
allele num: 16488
num of homozygotes: 0

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

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

Latino
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allele num: 11500
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.648856381330193e-5
allele num: 64532
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.324e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 6.178067e6

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.07e1

FS
type: SiteQuality
SIO_000300: 5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

GenotypeDepth
all individuals: 1834
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53031
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549426712116517e-5
allele num: 64540
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: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 2.656e1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.584e0

FS
type: SiteQuality
SIO_000300: 1.121e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

DP
type: SiteQuality
SIO_000300: 6.177463e6

MQ
type: SiteQuality
SIO_000300: 4.704e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

GenotypeDepth
all individuals: 2088
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 1