3-148899972-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148899972
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148899972
    reference: chr 3
allele count: 20
allele frequency: 1.653685237551884e-4
allele num: 120942
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1775-52A>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2426-52A>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2213-52A>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2458-52A>G
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10023
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8471
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5195
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17985
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6790
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3592
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-148901206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901206
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901206
    reference: chr 3
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2212+47G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2457+47G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1774+47G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2425+47G>A
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 770
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10722
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7553
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32622
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

3-148901212-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901212
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901212
    reference: chr 3
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2457+41T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2212+41T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1774+41T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2425+41T>C
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
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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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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
  all individuals: 1844
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

3-148901235-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901235
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901235
    reference: chr 3
allele count: 10
allele frequency: 8.237503706876669e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2457+18G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2212+18G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2425+18G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1774+18G>A
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12955
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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: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 768
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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: 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: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
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genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-148901240-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901240
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901240
    reference: chr 3
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2425+13C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2212+13C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2457+13C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1774+13C>T
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7541
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP

3-148901241-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901241
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901241
    reference: chr 3
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2425+12T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2212+12T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2457+12T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1774+12T>C
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7541
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

3-148901263-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901263
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901263
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2202G>C
  hgvsp: ENST00000481169.1:c.2202G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2415G>C
  hgvsp: ENST00000264613.6:c.2415G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1764G>C
  hgvsp: ENST00000494544.1:c.1764G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2447G>C
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2709
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu805Leu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

3-148901269-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901269
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901269
    reference: chr 3
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2441A>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2409A>T
  hgvsp: ENSP00000264613.6:p.Glu803Asp
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2196A>T
  hgvsp: ENSP00000418773.1:p.Glu732Asp
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1758A>T
  hgvsp: ENSP00000420545.1:p.Glu586Asp
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu803Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

3-148901270-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901270
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901270
    reference: chr 3
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2440A>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2408A>G
  hgvsp: ENSP00000264613.6:p.Glu803Gly
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1757A>G
  hgvsp: ENSP00000420545.1:p.Glu586Gly
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2195A>G
  hgvsp: ENSP00000418773.1:p.Glu732Gly
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10736
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu803Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-148901271-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901271
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901271
    reference: chr 3
allele count: 8
allele frequency: 6.589677270555675e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2407G>C
  hgvsp: ENSP00000264613.6:p.Glu803Gln
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2439G>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2194G>C
  hgvsp: ENSP00000418773.1:p.Glu732Gln
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1756G>C
  hgvsp: ENSP00000420545.1:p.Glu586Gln
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10736
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7537
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Glu803Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-148901280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901280
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901280
    reference: chr 3
allele count: 8
allele frequency: 6.589785831960461e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2398G>A
  hgvsp: ENSP00000264613.6:p.Ala800Thr
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1747G>A
  hgvsp: ENSP00000420545.1:p.Ala583Thr
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2430G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2185G>A
  hgvsp: ENSP00000418773.1:p.Ala729Thr
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10742
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala800Thr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

3-148901300-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901300
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901300
    reference: chr 3
allele count: 860
allele frequency: 7.08413647671296e-3
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2410G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2378G>A
  hgvsp: ENSP00000264613.6:p.Arg793His
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2165G>A
  hgvsp: ENSP00000418773.1:p.Arg722His
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1727G>A
  hgvsp: ENSP00000420545.1:p.Arg576His
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 5.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 10963
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 9.75e1
  variant carriers: 414
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 17480
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 5.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7573
  bin: 9.75e1
  variant carriers: 855
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32918
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg793His
num of homozygotes: 4
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-148901301-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901301
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901301
    reference: chr 3
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1726C>T
  hgvsp: ENSP00000420545.1:p.Arg576Cys
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2377C>T
  hgvsp: ENSP00000264613.6:p.Arg793Cys
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2409C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2164C>T
  hgvsp: ENSP00000418773.1:p.Arg722Cys
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6837
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg793Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

3-148901325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901325
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901325
    reference: chr 3
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1702C>T
  hgvsp: ENSP00000420545.1:p.Arg568Trp
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2385C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2353C>T
  hgvsp: ENSP00000264613.6:p.Arg785Trp
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2140C>T
  hgvsp: ENSP00000418773.1:p.Arg714Trp
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6802
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg785Trp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

3-148901327-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901327
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901327
    reference: chr 3
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2383A>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2138A>T
  hgvsp: ENSP00000418773.1:p.Tyr713Phe
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2351A>T
  hgvsp: ENSP00000264613.6:p.Tyr784Phe
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1700A>T
  hgvsp: ENSP00000420545.1:p.Tyr567Phe
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr784Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

3-148901331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901331
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901331
    reference: chr 3
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1696G>A
  hgvsp: ENSP00000420545.1:p.Val566Met
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2347G>A
  hgvsp: ENSP00000264613.6:p.Val783Met
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2134G>A
  hgvsp: ENSP00000418773.1:p.Val712Met
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2379G>A
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33427
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val783Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

3-148901339-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901339
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901339
    reference: chr 3
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2339A>C
  hgvsp: ENSP00000264613.6:p.Lys780Thr
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1688A>C
  hgvsp: ENSP00000420545.1:p.Lys563Thr
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2371A>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2126A>C
  hgvsp: ENSP00000418773.1:p.Lys709Thr
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6797
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys780Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

3-148901344-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901344
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901344
    reference: chr 3
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2121G>C
  hgvsp: ENSP00000418773.1:p.Lys707Asn
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2334G>C
  hgvsp: ENSP00000264613.6:p.Lys778Asn
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1683G>C
  hgvsp: ENSP00000420545.1:p.Lys561Asn
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2366G>C
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6790
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10791
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys778Asn
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

3-148901345-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901345
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901345
    reference: chr 3
allele count: 3
allele frequency: 2.473370049137618e-5
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2365A>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1682A>G
  hgvsp: ENSP00000420545.1:p.Lys561Arg
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2333A>G
  hgvsp: ENSP00000264613.6:p.Lys778Arg
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2120A>G
  hgvsp: ENSP00000418773.1:p.Lys707Arg
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6789
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys778Arg
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-148901348-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901348
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901348
    reference: chr 3
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2362C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2117C>T
  hgvsp: ENSP00000418773.1:p.Ser706Leu
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1679C>T
  hgvsp: ENSP00000420545.1:p.Ser560Leu
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2330C>T
  hgvsp: ENSP00000264613.6:p.Ser777Leu
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser777Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-148901368-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901368
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901368
    reference: chr 3
allele count: 10
allele frequency: 8.269656974628693e-5
allele num: 120924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2097G>A
  hgvsp: ENST00000481169.1:c.2097G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2342G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1659G>A
  hgvsp: ENST00000494544.1:c.1659G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2310G>A
  hgvsp: ENST00000264613.6:c.2310G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11372
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6754
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30686
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys770Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

3-148901383-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901383
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901383
    reference: chr 3
allele count: 1
allele frequency: 8.39560070523046e-6
allele num: 119110
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2327T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1644T>C
  hgvsp: ENST00000494544.1:c.1644T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2082T>C
  hgvsp: ENST00000481169.1:c.2082T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2295T>C
  hgvsp: ENST00000264613.6:c.2295T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8386
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6725
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9494
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn765Asn
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

3-148901384-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901384
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901384
    reference: chr 3
allele count: 1
allele frequency: 8.509189925119129e-6
allele num: 117520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2326A>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2081A>T
  hgvsp: ENSP00000418773.1:p.Asn694Ile
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2294A>T
  hgvsp: ENSP00000264613.6:p.Asn765Ile
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1643A>T
  hgvsp: ENSP00000420545.1:p.Asn548Ile
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10045
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6704
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4855
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn765Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-148901391-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901391
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901391
    reference: chr 3
allele count: 1
allele frequency: 9.06355363811043e-6
allele num: 110332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2074G>A
  hgvsp: ENSP00000418773.1:p.Val692Ile
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2287G>A
  hgvsp: ENSP00000264613.6:p.Val763Ile
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1636G>A
  hgvsp: ENSP00000420545.1:p.Val546Ile
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2319G>A
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8955
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val763Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-148901393-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901393
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901392
    reference: chr 3
allele count: 1
allele frequency: 9.396376757122453e-6
allele num: 106424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2073-2delA
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2318-2delA
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1635-2delA
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2286-2delA
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6700
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7541
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4914
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 5.75e1
  variant carriers: 0
hgvs: c.2286-2delA
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: CT
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

3-148901395-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901395
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901396
    reference: chr 3
allele count: 1307
allele frequency: 1.705909992690822e-2
allele num: 76616
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1635-4dupT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2286-4dupT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2073-4dupT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2318-4dupT
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 4.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 2.75e1
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10385
  bin: 2.25e1
  variant carriers: 361
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 3.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 3.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.75e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 1.25e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 7.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.25e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 11064
  bin: 1.75e1
  variant carriers: 299
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 6.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 3.25e1
  variant carriers: 151
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 5.75e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 7.5e0
  variant carriers: 193
genotype quality: GenotypeQuality
  all individuals: 5016
  bin: 2.25e1
  variant carriers: 168
genotype quality: GenotypeQuality
  all individuals: 3800
  bin: 6.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 9.75e1
  variant carriers: 204
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 2.75e1
  variant carriers: 163
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 9.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 11762
  bin: 2.5e0
  variant carriers: 140
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 1.75e1
  variant carriers: 180
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 8.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 5.25e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 45
hgvs: c.2286-4dupT
num of homozygotes: 1
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

3-148901395-T-TAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901395
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901397
    reference: chr 3
allele count: 9
allele frequency: 1.17468935992482e-4
allele num: 76616
alternate allele: TAA
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2286-5_2286-4dupTT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1635-5_1635-4dupTT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2318-5_2318-4dupTT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2073-5_2073-4dupTT
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11064
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11762
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 5016
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.75e1
  variant carriers: 0
hgvs: c.2286-5_2286-4dupTT
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-148901395-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901395
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901394
    reference: chr 3
allele count: 8300
allele frequency: 1.083324631930667e-1
allele num: 76616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2073-4delT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1635-4delT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2286-4delT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2318-4delT
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 3.75e1
  variant carriers: 619
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.75e1
  variant carriers: 302
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 10385
  bin: 2.25e1
  variant carriers: 2616
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 1.25e1
  variant carriers: 546
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 7.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 11064
  bin: 1.75e1
  variant carriers: 1910
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 3.25e1
  variant carriers: 1109
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 2.75e1
  variant carriers: 2197
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 206
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 4.25e1
  variant carriers: 362
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.25e1
  variant carriers: 213
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 4.25e1
  variant carriers: 675
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 2.75e1
  variant carriers: 840
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 1.75e1
  variant carriers: 635
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 8.25e1
  variant carriers: 232
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 3.75e1
  variant carriers: 800
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 7.5e0
  variant carriers: 619
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.75e1
  variant carriers: 255
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 9.25e1
  variant carriers: 143
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 6.75e1
  variant carriers: 341
genotype quality: GenotypeQuality
  all individuals: 3800
  bin: 6.25e1
  variant carriers: 441
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.75e1
  variant carriers: 205
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 1.25e1
  variant carriers: 658
genotype quality: GenotypeQuality
  all individuals: 11762
  bin: 2.5e0
  variant carriers: 463
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 9.75e1
  variant carriers: 914
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 284
genotype quality: GenotypeQuality
  all individuals: 5016
  bin: 2.25e1
  variant carriers: 770
hgvs: c.2286-4delT
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: TA
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

3-148901395-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901395
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901393
    reference: chr 3
allele count: 11
allele frequency: 1.435731439908113e-4
allele num: 76616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1635-5_1635-4delTT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2073-5_2073-4delTT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2318-5_2318-4delTT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2286-5_2286-4delTT
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10385
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5016
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11762
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3800
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 9.25e1
  variant carriers: 0
hgvs: c.2286-5_2286-4delTT
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: TAA
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

3-148901396-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901396
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901396
    reference: chr 3
allele count: 1
allele frequency: 6.039376736320811e-5
allele num: 16558
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1635-4T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2318-4T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2073-4T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2286-4T>C
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: splice region
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27331
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
hgvs: c.2286-4T>C
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/3-148901402-AAAAAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901402
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901397
    reference: chr 3
allele count: 1
allele frequency: 9.199632014719412e-6
allele num: 108700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2318-15_2318-11delGTTTT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2286-15_2286-11delGTTTT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2073-15_2073-11delGTTTT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1635-15_1635-11delGTTTT
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5285
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11896
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: AAAAAC
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-148901404-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901404
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901404
    reference: chr 3
allele count: 454
allele frequency: 4.21103402218677e-3
allele num: 107812
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2073-12T>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1635-12T>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2286-12T>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2318-12T>G
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 3.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12155
  bin: 2.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 10433
  bin: 2.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 7206
  bin: 1.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 5680
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11509
  bin: 1.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11001
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15535
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1868
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 10
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/3-148901404-AAAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901404
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901401
    reference: chr 3
allele count: 64
allele frequency: 5.936259414536416e-4
allele num: 107812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2073-15_2073-13delGTT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2286-15_2286-13delGTT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2318-15_2318-13delGTT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1635-15_1635-13delGTT
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5680
  bin: 7.5e0
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 7206
  bin: 1.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 11509
  bin: 1.25e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10433
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 2.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12155
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 15535
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.5e0
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 3.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 1.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 2.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 1.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11001
  bin: 2.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6911
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: AAAC
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-148901405-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901405
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901403
    reference: chr 3
allele count: 243
allele frequency: 3.486170090669115e-3
allele num: 69704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1635-15_1635-14delGT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2073-15_2073-14delGT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2318-15_2318-14delGT
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2286-15_2286-14delGT
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9269
  bin: 2.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 1.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 2.25e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 8341
  bin: 1.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 1.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.75e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.5e0
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4475
  bin: 9.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 3.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 11013
  bin: 2.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 2.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 7.5e0
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 13337
  bin: 6.25e1
  variant carriers: 7
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: AAC
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/3-148901406-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901406
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901405
    reference: chr 3
allele count: 24673
allele frequency: 2.38635484370164e-1
allele num: 103392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2073-15delG
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2286-15delG
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1635-15delG
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2318-15delG
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 465
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.75e1
  variant carriers: 483
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 7.5e0
  variant carriers: 953
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 1.75e1
  variant carriers: 5497
genotype depth: GenotypeDepth
  all individuals: 9750
  bin: 2.25e1
  variant carriers: 4599
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 3.25e1
  variant carriers: 1500
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.5e0
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 12344
  bin: 1.25e1
  variant carriers: 3633
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 203
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 709
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 4.25e1
  variant carriers: 763
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 3.75e1
  variant carriers: 975
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 11524
  bin: 2.75e1
  variant carriers: 2887
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.25e1
  variant carriers: 521
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 8.75e1
  variant carriers: 312
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 2.5e0
  variant carriers: 107
genotype quality: GenotypeQuality
  all individuals: 12837
  bin: 6.25e1
  variant carriers: 341
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 3.25e1
  variant carriers: 342
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.25e1
  variant carriers: 332
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 7.75e1
  variant carriers: 327
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 3.75e1
  variant carriers: 408
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 1.75e1
  variant carriers: 216
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 1.25e1
  variant carriers: 194
genotype quality: GenotypeQuality
  all individuals: 19400
  bin: 9.75e1
  variant carriers: 17997
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 2.75e1
  variant carriers: 393
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 6.75e1
  variant carriers: 336
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.25e1
  variant carriers: 362
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 7.5e0
  variant carriers: 139
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 4.25e1
  variant carriers: 435
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 8.25e1
  variant carriers: 354
genotype quality: GenotypeQuality
  all individuals: 11404
  bin: 2.25e1
  variant carriers: 275
num of homozygotes: 2167
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: AC
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/3-148901407-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901407
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901407
    reference: chr 3
allele count: 1252
allele frequency: 2.003264104451342e-2
allele num: 62498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2318-15G>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2286-15G>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2073-15G>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1635-15G>T
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 1.75e1
  variant carriers: 396
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 8744
  bin: 2.75e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 7.5e0
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 9336
  bin: 1.25e1
  variant carriers: 198
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 2.25e1
  variant carriers: 344
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 3.25e1
  variant carriers: 124
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 5.25e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 3.75e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 7.5e0
  variant carriers: 123
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.25e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 2.5e0
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 12131
  bin: 6.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 1.25e1
  variant carriers: 131
genotype quality: GenotypeQuality
  all individuals: 11701
  bin: 2.25e1
  variant carriers: 110
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.75e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 3.25e1
  variant carriers: 100
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 2.75e1
  variant carriers: 107
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 9.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 1.75e1
  variant carriers: 156
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 6.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.25e1
  variant carriers: 23
num of homozygotes: 2
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

3-148901407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901407
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901407
    reference: chr 3
allele count: 3
allele frequency: 4.800153604915358e-5
allele num: 62498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2318-15G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2073-15G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2286-15G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1635-15G>A
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9336
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11701
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

3-148901410-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901410
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901410
    reference: chr 3
allele count: 3
allele frequency: 3.079007328037441e-5
allele num: 97434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2318-18G>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2073-18G>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1635-18G>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2286-18G>C
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7272
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

3-148901433-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901433
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901433
    reference: chr 3
allele count: 1
allele frequency: 1.197461381870435e-5
allele num: 83510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1635-41C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2286-41C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2073-41C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2318-41C>T
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5740
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22054
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6669
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

3-148901443-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148901443
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148901441
    reference: chr 3
allele count: 23
allele frequency: 3.224540152534769e-4
allele num: 71328
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2286-53_2286-52delAA
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2318-53_2318-52delAA
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1635-53_1635-52delAA
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2073-53_2073-52delAA
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17649
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8481
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17404
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4556
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5876
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12861
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 9.75e1
  variant carriers: 28
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: CTT
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

3-148902975-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148902975
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148902975
    reference: chr 3
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.517T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2317+51T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2285+51T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1634+51T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2072+51T>C
  variant of: http://identifiers.org/hgnc/2295
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

3-148902976-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148902976
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148902976
    reference: chr 3
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.516C>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2317+50C>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2072+50C>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2285+50C>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1634+50C>G
  variant of: http://identifiers.org/hgnc/2295
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/3-148903006-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903006
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903006
    reference: chr 3
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2317+20T>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2285+20T>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1634+20T>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.486T>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2072+20T>G
  variant of: http://identifiers.org/hgnc/2295
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

3-148903022-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903022
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903022
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2317+4A>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.470A>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2285+4A>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1634+4A>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2072+4A>C
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6597
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: c.2285+4A>C
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

3-148903042-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903042
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903042
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1618C>A
  hgvsp: ENSP00000420545.1:p.His540Asn
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2301C>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.450C>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2269C>A
  hgvsp: ENSP00000264613.6:p.His757Asn
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2056C>A
  hgvsp: ENSP00000418773.1:p.His686Asn
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.601C>A
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His757Asn
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

3-148903043-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903043
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903043
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1617T>C
  hgvsp: ENST00000494544.1:c.1617T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2055T>C
  hgvsp: ENST00000481169.1:c.2055T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2268T>C
  hgvsp: ENST00000264613.6:c.2268T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.449T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2300T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.600T>C
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6595
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His756His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-148903045-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903045
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903045
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2266C>A
  hgvsp: ENSP00000264613.6:p.His756Asn
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2298C>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.598C>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.447C>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1615C>A
  hgvsp: ENSP00000420545.1:p.His539Asn
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2053C>A
  hgvsp: ENSP00000418773.1:p.His685Asn
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6594
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His756Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

3-148903048-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903048
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903048
    reference: chr 3
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2295C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.595C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2050C>T
  hgvsp: ENST00000481169.1:c.2050C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.444C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2263C>T
  hgvsp: ENST00000264613.6:c.2263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1612C>T
  hgvsp: ENST00000494544.1:c.1612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu755Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum

3-148903051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903051
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903051
    reference: chr 3
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2047G>A
  hgvsp: ENSP00000418773.1:p.Glu683Lys
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2292G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1609G>A
  hgvsp: ENSP00000420545.1:p.Glu537Lys
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2260G>A
  hgvsp: ENSP00000264613.6:p.Glu754Lys
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.441G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.592G>A
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6589
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10668
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu754Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ

3-148903065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903065
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903065
    reference: chr 3
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2246G>A
  hgvsp: ENSP00000264613.6:p.Arg749Lys
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.578G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2278G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2033G>A
  hgvsp: ENSP00000418773.1:p.Arg678Lys
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.427G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1595G>A
  hgvsp: ENSP00000420545.1:p.Arg532Lys
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg749Lys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

3-148903072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903072
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903072
    reference: chr 3
allele count: 6
allele frequency: 4.942013705851344e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2026C>T
  hgvsp: ENSP00000418773.1:p.Pro676Ser
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.420C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1588C>T
  hgvsp: ENSP00000420545.1:p.Pro530Ser
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2271C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2239C>T
  hgvsp: ENSP00000264613.6:p.Pro747Ser
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.571C>T
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro747Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-148903078-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903078
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903078
    reference: chr 3
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2233T>C
  hgvsp: ENSP00000264613.6:p.Tyr745His
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.414T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2265T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2020T>C
  hgvsp: ENSP00000418773.1:p.Tyr674His
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1582T>C
  hgvsp: ENSP00000420545.1:p.Tyr528His
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.565T>C
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6579
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr745His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

3-148903087-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903087
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903087
    reference: chr 3
allele count: 10
allele frequency: 8.236825198095645e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2224G>C
  hgvsp: ENSP00000264613.6:p.Glu742Gln
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2011G>C
  hgvsp: ENSP00000418773.1:p.Glu671Gln
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.405G>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1573G>C
  hgvsp: ENSP00000420545.1:p.Glu525Gln
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.556G>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2256G>C
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu742Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

3-148903090-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903090
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903090
    reference: chr 3
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2008G>A
  hgvsp: ENSP00000418773.1:p.Val670Met
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.402G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2253G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1570G>A
  hgvsp: ENSP00000420545.1:p.Val524Met
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2221G>A
  hgvsp: ENSP00000264613.6:p.Val741Met
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.553G>A
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31466
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val741Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ

3-148903095-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903095
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903095
    reference: chr 3
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1565T>C
  hgvsp: ENSP00000420545.1:p.Val522Ala
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2216T>C
  hgvsp: ENSP00000264613.6:p.Val739Ala
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2248T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2003T>C
  hgvsp: ENSP00000418773.1:p.Val668Ala
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.548T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.397T>C
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val739Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

3-148903096-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903096
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903096
    reference: chr 3
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.547G>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2215G>C
  hgvsp: ENSP00000264613.6:p.Val739Leu
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1564G>C
  hgvsp: ENSP00000420545.1:p.Val522Leu
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.2002G>C
  hgvsp: ENSP00000418773.1:p.Val668Leu
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2247G>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.396G>C
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val739Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-148903102-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903102
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903102
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2209G>A
  hgvsp: ENSP00000264613.6:p.Ala737Thr
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1558G>A
  hgvsp: ENSP00000420545.1:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2241G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1996G>A
  hgvsp: ENSP00000418773.1:p.Ala666Thr
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.541G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.390G>A
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6566
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala737Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS

3-148903103-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903103
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903103
    reference: chr 3
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2208C>T
  hgvsp: ENST00000264613.6:c.2208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2240C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.540C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1557C>T
  hgvsp: ENST00000494544.1:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1995C>T
  hgvsp: ENST00000481169.1:c.1995C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.389C>T
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6565
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile736Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

3-148903104-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903104
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903104
    reference: chr 3
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.388T>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2207T>A
  hgvsp: ENSP00000264613.6:p.Ile736Asn
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1994T>A
  hgvsp: ENSP00000418773.1:p.Ile665Asn
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2239T>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1556T>A
  hgvsp: ENSP00000420545.1:p.Ile519Asn
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.539T>A
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile736Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

3-148903129-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903129
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903129
    reference: chr 3
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2182T>C
  hgvsp: ENSP00000264613.6:p.Tyr728His
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1969T>C
  hgvsp: ENSP00000418773.1:p.Tyr657His
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.514T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1531T>C
  hgvsp: ENSP00000420545.1:p.Tyr511His
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.363T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2214T>C
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31472
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr728His
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/3-148903141-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903141
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903141
    reference: chr 3
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2202G>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.502G>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1519G>T
  hgvsp: ENSP00000420545.1:p.Asp507Tyr
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1957G>T
  hgvsp: ENSP00000418773.1:p.Asp653Tyr
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.351G>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2170G>T
  hgvsp: ENSP00000264613.6:p.Asp724Tyr
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6559
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp724Tyr
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-148903152-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903152
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903152
    reference: chr 3
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1508G>A
  hgvsp: ENSP00000420545.1:p.Arg503Gln
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.491G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2159G>A
  hgvsp: ENSP00000264613.6:p.Arg720Gln
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.340G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1946G>A
  hgvsp: ENSP00000418773.1:p.Arg649Gln
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2191G>A
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg720Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-148903153-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903153
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903153
    reference: chr 3
allele count: 27
allele frequency: 2.224162643952749e-4
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1945C>T
  hgvsp: ENSP00000418773.1:p.Arg649Trp
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.339C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1507C>T
  hgvsp: ENSP00000420545.1:p.Arg503Trp
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2190C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2158C>T
  hgvsp: ENSP00000264613.6:p.Arg720Trp
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.490C>T
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg720Trp
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

3-148903169-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903169
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903169
    reference: chr 3
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2174T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.323T>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1929T>C
  hgvsp: ENST00000481169.1:c.1929T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2142T>C
  hgvsp: ENST00000264613.6:c.2142T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1491T>C
  hgvsp: ENST00000494544.1:c.1491T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.474T>C
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6528
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr714Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

3-148903181-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903181
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903181
    reference: chr 3
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1479G>A
  hgvsp: ENST00000494544.1:c.1479G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.311G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2130G>A
  hgvsp: ENST00000264613.6:c.2130G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1917G>A
  hgvsp: ENST00000481169.1:c.1917G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2162G>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.462G>A
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys710Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

3-148903190-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903190
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903190
    reference: chr 3
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1470C>T
  hgvsp: ENST00000494544.1:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2153C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.453C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1908C>T
  hgvsp: ENST00000481169.1:c.1908C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2121C>T
  hgvsp: ENST00000264613.6:c.2121C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.302C>T
  variant of: http://identifiers.org/hgnc/2295
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18280
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3719
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
hgvs: n.453C>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-148903195-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903195
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903195
    reference: chr 3
allele count: 3
allele frequency: 2.471943441934048e-5
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.297A>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2116A>G
  hgvsp: ENSP00000264613.6:p.Thr706Ala
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1903A>G
  hgvsp: ENSP00000418773.1:p.Thr635Ala
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1465A>G
  hgvsp: ENSP00000420545.1:p.Thr489Ala
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2148A>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.452-4A>G
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr706Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-148903200-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903200
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903199
    reference: chr 3
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2142delC
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1897delC
  hgvsp: ENSP00000418773.1:p.His633IlefsTer6
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2110delC
  hgvsp: ENSP00000264613.6:p.His704IlefsTer6
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1459delC
  hgvsp: ENSP00000420545.1:p.His487IlefsTer6
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.291delC
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.452-10delC
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6512
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His704IlefsTer6
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: TG
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-148903203-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903203
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903203
    reference: chr 3
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2108A>G
  hgvsp: ENSP00000264613.6:p.Asp703Gly
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2140A>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.452-12A>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.289A>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1895A>G
  hgvsp: ENSP00000418773.1:p.Asp632Gly
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1457A>G
  hgvsp: ENSP00000420545.1:p.Asp486Gly
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp703Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

3-148903209-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903209
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903209
    reference: chr 3
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1451C>A
  hgvsp: ENSP00000420545.1:p.Thr484Lys
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.283C>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.452-18C>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1889C>A
  hgvsp: ENSP00000418773.1:p.Thr630Lys
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2134C>A
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2102C>A
  hgvsp: ENSP00000264613.6:p.Thr701Lys
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr701Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

3-148903213-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903213
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903213
    reference: chr 3
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.452-22C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.279C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2130C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1447C>T
  hgvsp: ENSP00000420545.1:p.Leu483Phe
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1885C>T
  hgvsp: ENSP00000418773.1:p.Leu629Phe
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2098C>T
  hgvsp: ENSP00000264613.6:p.Leu700Phe
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6508
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu700Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

3-148903240-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903240
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903240
    reference: chr 3
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2078-7A>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.452-49A>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1427-7A>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1865-7A>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.259-7A>C
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2110-7A>C
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6500
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10442
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
hgvs: c.2078-7A>C
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-148903250-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903250
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903250
    reference: chr 3
allele count: 1
allele frequency: 8.290361625574107e-6
allele num: 120622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.452-59C>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1427-17C>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.259-17C>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2110-17C>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1865-17C>G
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2078-17C>G
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17604
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-148903258-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148903258
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148903258
    reference: chr 3
allele count: 1
allele frequency: 8.337780149413021e-6
allele num: 119936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000420545
  ensembl transcript: ENST00000494544
  gene symbol: CP
  hgvsc: ENST00000494544.1:c.1427-25C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000462336
  gene symbol: CP
  hgvsc: ENST00000462336.1:n.452-67C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000264613
  ensembl transcript: ENST00000264613
  gene symbol: CP
  hgvsc: ENST00000264613.6:c.2078-25C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000490639
  gene symbol: CP
  hgvsc: ENST00000490639.1:n.2110-25C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl protein: ENSP00000418773
  ensembl transcript: ENST00000481169
  gene symbol: CP
  hgvsc: ENST00000481169.1:c.1865-25C>T
  variant of: http://identifiers.org/hgnc/2295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047457
  ensembl transcript: ENST00000497902
  gene symbol: CP
  hgvsc: ENST00000497902.1:n.259-25C>T
  variant of: http://identifiers.org/hgnc/2295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16622
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28078
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 366
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4932
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3911
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.819946614899296e-4
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

East Asian
type: Population
allele count: 16
allele frequency: 1.861764021410286e-3
allele num: 8594
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.68e-1

QD
type: SiteQuality
SIO_000300: 1.781e1

FS
type: SiteQuality
SIO_000300: 3.417e0

DP
type: SiteQuality
SIO_000300: 2.409457e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3059
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.376109e6

QD
type: SiteQuality
SIO_000300: 1.23e1

MQ
type: SiteQuality
SIO_000300: 5.901e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.418e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.133e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.75e0

MQRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e0

DP
type: SiteQuality
SIO_000300: 2.376548e6

VQSLOD
type: SiteQuality
SIO_000300: -9.075e-1

GenotypeQuality
all individuals: 1839
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7552
bin: 9.75e1
variant carriers: 10

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.498531439189594e-4
allele num: 66732
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.64e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

QD
type: SiteQuality
SIO_000300: 1.196e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.573e0

DP
type: SiteQuality
SIO_000300: 2.377892e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32903
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.968e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.294e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.861e1

MQRankSum
type: SiteQuality
SIO_000300: -1.73e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

FS
type: SiteQuality
SIO_000300: 4.64e0

DP
type: SiteQuality
SIO_000300: 2.377293e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.916e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

QD
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.157e-1

DP
type: SiteQuality
SIO_000300: 2.377139e6

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: -2.004e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.377263e6

MQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

MQ
type: SiteQuality
SIO_000300: 5.838e1

QD
type: SiteQuality
SIO_000300: 1.441e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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 frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.377213e6

VQSLOD
type: SiteQuality
SIO_000300: -5.637e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.049e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.891e1

MQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 1.363e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

African
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allele frequency: 9.611687812379854e-5
allele num: 10404
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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.739e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.377221e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.887e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495324862143371e-5
allele num: 66736
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.422774076317383e-4
allele num: 16510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.899e1

MQRankSum
type: SiteQuality
SIO_000300: 9.26e-1

DP
type: SiteQuality
SIO_000300: 2.377409e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11576
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: 8654
num of homozygotes: 0

European (Finnish)
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allele count: 6
allele frequency: 9.071666162685213e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.377015e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

QD
type: SiteQuality
SIO_000300: 1.209e1

VQSLOD
type: SiteQuality
SIO_000300: 5.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e0

FS
type: SiteQuality
SIO_000300: 4.188e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

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: 8.25e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 514
allele frequency: 7.702220757035395e-3
allele num: 66734
num of homozygotes: 1

South Asian
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allele count: 50
allele frequency: 3.028467595396729e-3
allele num: 16510
num of homozygotes: 0

Latino
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allele count: 61
allele frequency: 5.269523151347616e-3
allele num: 11576
num of homozygotes: 0

African
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allele count: 215
allele frequency: 2.066512879661669e-2
allele num: 10404
num of homozygotes: 3

Other
type: Population
allele count: 13
allele frequency: 1.431718061674009e-2
allele num: 908
num of homozygotes: 0

European (Finnish)
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allele count: 6
allele frequency: 9.071666162685213e-4
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.51e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

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

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

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

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

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.341848e6

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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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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variant carriers: 0

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

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

European (Non-Finnish)
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African
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Latino
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South Asian
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allele num: 16510
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Other
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

East Asian
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allele frequency: 1.156871818602499e-4
allele num: 8644
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.83e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.92270717169775e-4
allele num: 10402
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.028e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

FS
type: SiteQuality
SIO_000300: 4.749e0

QD
type: SiteQuality
SIO_000300: 1.281e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 5.645e1

DP
type: SiteQuality
SIO_000300: 2.337946e6

VQSLOD
type: SiteQuality
SIO_000300: -2.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

GenotypeQuality
all individuals: 3051
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1835
bin: 8.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.108e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.641e0

FS
type: SiteQuality
SIO_000300: 2.204e0

DP
type: SiteQuality
SIO_000300: 2.335734e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

QD
type: SiteQuality
SIO_000300: 1.393e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

MQ
type: SiteQuality
SIO_000300: 5.701e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.473830477072719e-4
allele num: 8636
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.584e1

MQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.484e-1

FS
type: SiteQuality
SIO_000300: 3.752e0

DP
type: SiteQuality
SIO_000300: 2.334588e6

MQ
type: SiteQuality
SIO_000300: 5.619e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.52e-1

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6784
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variant carriers: 1

GenotypeQuality
all individuals: 10748
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.068e1

VQSLOD
type: SiteQuality
SIO_000300: -1.761e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.309e0

DP
type: SiteQuality
SIO_000300: 2.332486e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.809e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

GenotypeQuality
all individuals: 10029
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
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variant carriers: 0

GenotypeQuality
all individuals: 744
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variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.525133947384263e-5
allele num: 66444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.033612425676495e-4
allele num: 16482
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.606e0

FS
type: SiteQuality
SIO_000300: 3.276e0

MQ
type: SiteQuality
SIO_000300: 5.635e1

VQSLOD
type: SiteQuality
SIO_000300: -8.764e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

DP
type: SiteQuality
SIO_000300: 2.285207e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 17501
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2567
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7104
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531675039823551e-5
allele num: 65288
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.418e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.64e0

MQ
type: SiteQuality
SIO_000300: 5.632e1

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.239e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.109647e6

MQRankSum
type: SiteQuality
SIO_000300: -7.99e-1

GenotypeQuality
all individuals: 1641
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3463
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.517e1

QD
type: SiteQuality
SIO_000300: 3.06e0

DP
type: SiteQuality
SIO_000300: 2.063876e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.412e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6699
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60056
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.72e1

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.413e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.347e0

MQ
type: SiteQuality
SIO_000300: 5.777e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

DP
type: SiteQuality
SIO_000300: 1.986746e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e-1

GenotypeQuality
all individuals: 692
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.501950585175553e-5
allele num: 15380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.704e0

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

DP
type: SiteQuality
SIO_000300: 1.974883e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

QD
type: SiteQuality
SIO_000300: 1.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.51e-1

GenotypeQuality
all individuals: 2480
bin: 1.25e1
variant carriers: 186

GenotypeQuality
all individuals: 2869
bin: 3.75e1
variant carriers: 119

GenotypeQuality
all individuals: 2906
bin: 4.75e1
variant carriers: 78

GenotypeQuality
all individuals: 2879
bin: 4.25e1
variant carriers: 112

Latino
type: Population
allele count: 114
allele frequency: 1.573281810654154e-2
allele num: 7246
num of homozygotes: 0

East Asian
type: Population
allele count: 158
allele frequency: 3.542600896860987e-2
allele num: 4460
num of homozygotes: 1

South Asian
type: Population
allele count: 496
allele frequency: 4.684548545523234e-2
allele num: 10588
num of homozygotes: 0

African
type: Population
allele count: 42
allele frequency: 5.737704918032787e-3
allele num: 7320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 471
allele frequency: 1.124695544199819e-2
allele num: 41878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 11
allele frequency: 2.428256070640177e-3
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 15
allele frequency: 2.525252525252525e-2
allele num: 594
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.757839e6

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

QD
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

FS
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 2844
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2370
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2869
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3264
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.366120218579235e-4
allele num: 7320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.43273317732461e-4
allele num: 41878
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.444654325651681e-5
allele num: 10588
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.380071763731714e-4
allele num: 7246
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

FS
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

DP
type: SiteQuality
SIO_000300: 1.757839e6

QD
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

GenotypeQuality
all individuals: 2906
bin: 4.75e1
variant carriers: 620

GenotypeQuality
all individuals: 2844
bin: 3.25e1
variant carriers: 820

GenotypeQuality
all individuals: 2666
bin: 5.25e1
variant carriers: 526

GenotypeQuality
all individuals: 2544
bin: 5.75e1
variant carriers: 473

European (Non-Finnish)
type: Population
allele count: 4557
allele frequency: 1.088160848178041e-1
allele num: 41878
num of homozygotes: 0

East Asian
type: Population
allele count: 921
allele frequency: 2.065022421524664e-1
allele num: 4460
num of homozygotes: 0

Latino
type: Population
allele count: 971
allele frequency: 1.340049682583494e-1
allele num: 7246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 416
allele frequency: 9.183222958057395e-2
allele num: 4530
num of homozygotes: 0

African
type: Population
allele count: 341
allele frequency: 4.658469945355191e-2
allele num: 7320
num of homozygotes: 1

South Asian
type: Population
allele count: 1030
allele frequency: 9.727993955421231e-2
allele num: 10588
num of homozygotes: 0

Other
type: Population
allele count: 64
allele frequency: 1.077441077441077e-1
allele num: 594
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

DP
type: SiteQuality
SIO_000300: 1.757839e6

FS
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

QD
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 1011
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3264
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2879
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2093
bin: 1.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.193944314437175e-4
allele num: 41878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7246
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.366120218579235e-4
allele num: 7320
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 8.968609865470852e-4
allele num: 4460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.207505518763797e-4
allele num: 4530
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 1.757839e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 2.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1472
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.098901098901099e-3
allele num: 910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8948
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.315397e6

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 7.043e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.197e0

MQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.042e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.717e1

GenotypeQuality
all individuals: 1276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3216
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6968
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10468
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.045806316670153e-4
allele num: 9562
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -9.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.548706e6

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -3.507e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

GenotypeQuality
all individuals: 2312
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6911
bin: 9.75e1
variant carriers: 437

GenotypeQuality
all individuals: 1854
bin: 7.75e1
variant carriers: 4

South Asian
type: Population
allele count: 129
allele frequency: 8.335487205996382e-3
allele num: 15476
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.54009377459872e-4
allele num: 58438
num of homozygotes: 0

African
type: Population
allele count: 296
allele frequency: 3.125e-2
allele num: 9472
num of homozygotes: 8

Latino
type: Population
allele count: 19
allele frequency: 1.82903350019253e-3
allele num: 10388
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.204819277108434e-3
allele num: 830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.56e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.42e0

QD
type: SiteQuality
SIO_000300: 1.571e1

DP
type: SiteQuality
SIO_000300: 1.50652e6

GenotypeQuality
all individuals: 1904
bin: 3.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2107
bin: 4.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1868
bin: 5.25e1
variant carriers: 5

South Asian
type: Population
allele count: 3
allele frequency: 1.938485396743345e-4
allele num: 15476
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.111486486486487e-4
allele num: 9472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.6e-4
allele num: 6250
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 9.626492106276473e-4
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 8.213833464526507e-4
allele num: 58438
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.50652e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.571e1

VQSLOD
type: SiteQuality
SIO_000300: 5.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.56e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

GenotypeQuality
all individuals: 840
bin: 7.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2338
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 339
bin: 4.75e1
variant carriers: 11

Latino
type: Population
allele count: 21
allele frequency: 3.018976423231742e-3
allele num: 6956
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.792114695340502e-3
allele num: 558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.518891687657431e-4
allele num: 3970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 160
allele frequency: 4.466279589102277e-3
allele num: 35824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6766
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 7.524649714582252e-3
allele num: 3854
num of homozygotes: 0

South Asian
type: Population
allele count: 31
allele frequency: 2.632472826086957e-3
allele num: 11776
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.094373e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

QD
type: SiteQuality
SIO_000300: 8.7e-1

GenotypeQuality
all individuals: 672
bin: 5.25e1
variant carriers: 334

GenotypeQuality
all individuals: 661
bin: 5.75e1
variant carriers: 363

GenotypeQuality
all individuals: 716
bin: 4.75e1
variant carriers: 403

East Asian
type: Population
allele count: 36
allele frequency: 5.411906193625977e-3
allele num: 6652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14140
allele frequency: 2.532507074542393e-1
allele num: 55834
num of homozygotes: 1139

South Asian
type: Population
allele count: 3136
allele frequency: 2.06996699669967e-1
allele num: 15150
num of homozygotes: 143

European (Finnish)
type: Population
allele count: 1374
allele frequency: 2.267326732673267e-1
allele num: 6060
num of homozygotes: 123

Other
type: Population
allele count: 175
allele frequency: 2.1712158808933e-1
allele num: 806
num of homozygotes: 9

Latino
type: Population
allele count: 1882
allele frequency: 1.888041733547351e-1
allele num: 9968
num of homozygotes: 101

African
type: Population
allele count: 3930
allele frequency: 4.404841963685273e-1
allele num: 8922
num of homozygotes: 652

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

FS
type: SiteQuality
SIO_000300: 1.166e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.01e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.443533e6

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

QD
type: SiteQuality
SIO_000300: 1.109e1

GenotypeQuality
all individuals: 1955
bin: 9.75e1
variant carriers: 401

GenotypeQuality
all individuals: 548
bin: 7.25e1
variant carriers: 33

GenotypeQuality
all individuals: 666
bin: 7.75e1
variant carriers: 32

African
type: Population
allele count: 334
allele frequency: 1.022657685241886e-1
allele num: 3266
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 9
allele frequency: 2.488938053097345e-3
allele num: 3616
num of homozygotes: 0

South Asian
type: Population
allele count: 356
allele frequency: 3.296296296296296e-2
allele num: 10800
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 1.785714285714286e-2
allele num: 504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 469
allele frequency: 1.501280409731114e-2
allele num: 31240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

Latino
type: Population
allele count: 75
allele frequency: 1.139125151883354e-2
allele num: 6584
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.228e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

QD
type: SiteQuality
SIO_000300: 1.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

DP
type: SiteQuality
SIO_000300: 9.01525e5

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
all individuals: 1955
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 538
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.603072983354673e-5
allele num: 31240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10800
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.228e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 9.01525e5

GenotypeQuality
all individuals: 744
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18573
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.518833535844471e-4
allele num: 6584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.85981164119191e-5
allele num: 51816
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.026e0

DP
type: SiteQuality
SIO_000300: 1.221226e6

QD
type: SiteQuality
SIO_000300: 3.27e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.071e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.434e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
all individuals: 164
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.301601914932793e-5
allele num: 43448
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.210000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

FS
type: SiteQuality
SIO_000300: 1.868e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.41e-2

DP
type: SiteQuality
SIO_000300: 9.76252e5

QD
type: SiteQuality
SIO_000300: 3.328e1

VQSLOD
type: SiteQuality
SIO_000300: -2.608e0

GenotypeQuality
all individuals: 7384
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 6.25e1
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: 620
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 2.978276103714086e-3
allele num: 5708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.199857869130268e-5
allele num: 36586
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 4.236091499576391e-4
allele num: 7082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12722
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 1.796e1

DP
type: SiteQuality
SIO_000300: 9.3451e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.73e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.997177e6

MQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

MQ
type: SiteQuality
SIO_000300: 5.841e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.41e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.38e0

VQSLOD
type: SiteQuality
SIO_000300: -1.793e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.152e0

DP
type: SiteQuality
SIO_000300: 1.997115e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.339e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.44e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2508
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.393e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

DP
type: SiteQuality
SIO_000300: 2.000289e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.086e0

VQSLOD
type: SiteQuality
SIO_000300: 8.23e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.266e1

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: 1
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 4.665e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 2.000349e6

MQRankSum
type: SiteQuality
SIO_000300: 9.61e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: -3.725e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.142e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.871e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.062e0

VQSLOD
type: SiteQuality
SIO_000300: -1.553e0

QD
type: SiteQuality
SIO_000300: 1.242e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.657e0

FS
type: SiteQuality
SIO_000300: 7.91e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.000572e6

GenotypeQuality
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bin: 1.75e1
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: 4.75e1
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: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.874e1

VQSLOD
type: SiteQuality
SIO_000300: -2.726e0

FS
type: SiteQuality
SIO_000300: 2.255e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

DP
type: SiteQuality
SIO_000300: 2.000339e6

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.374e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 31463
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.286e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.717e0

MQRankSum
type: SiteQuality
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QD
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SIO_000300: 1.261e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.828e1

DP
type: SiteQuality
SIO_000300: 2.00037e6

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: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.454828122300915e-4
allele num: 11578
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.14e1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e0

VQSLOD
type: SiteQuality
SIO_000300: -5.06e-1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.859e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.254e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.990649724286742e-5
allele num: 66736
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.807e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

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

East Asian
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South Asian
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Other
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ClippingRankSum
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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African
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Other
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
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QD
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ClippingRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Other
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South Asian
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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DP
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FS
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ReadPosRankSum
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ClippingRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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FS
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QD
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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQ
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QD
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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
all individuals: 1063
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.995905e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.379e1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 5.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.431e0

VQSLOD
type: SiteQuality
SIO_000300: -2.206e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e0

MQ
type: SiteQuality
SIO_000300: 5.819e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

GenotypeQuality
all individuals: 2501
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3175
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 10649
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3739
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31415
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.446828917395996e-4
allele num: 66728
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.043e1

FS
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.002e1

DP
type: SiteQuality
SIO_000300: 1.996651e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.538e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.362e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.741e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.94e-1

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3742
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.947e0

FS
type: SiteQuality
SIO_000300: 3.294e0

QD
type: SiteQuality
SIO_000300: 1.391e1

DP
type: SiteQuality
SIO_000300: 1.991872e6

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

GenotypeQuality
all individuals: 64
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10587
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6523
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2494
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.022e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

DP
type: SiteQuality
SIO_000300: 1.990832e6

VQSLOD
type: SiteQuality
SIO_000300: 4.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.619e0

FS
type: SiteQuality
SIO_000300: 1.887e0

MQRankSum
type: SiteQuality
SIO_000300: -3.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
all individuals: 6518
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10571
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2489
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31459
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.92e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.369e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e0

QD
type: SiteQuality
SIO_000300: 1.142e1

DP
type: SiteQuality
SIO_000300: 1.989962e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.755e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31526
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3717
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6515
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 10573
bin: 6.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496537665997182e-5
allele num: 66718
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-3

FS
type: SiteQuality
SIO_000300: 2.401e0

DP
type: SiteQuality
SIO_000300: 1.989765e6

VQSLOD
type: SiteQuality
SIO_000300: 5.05e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

MQ
type: SiteQuality
SIO_000300: 5.89e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.909e0

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

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

GenotypeQuality
all individuals: 3140
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10580
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2490
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3714
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997871511227029e-5
allele num: 66714
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 3.036e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.064e0

DP
type: SiteQuality
SIO_000300: 1.989326e6

QD
type: SiteQuality
SIO_000300: 1.322e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.972e0

GenotypeQuality
all individuals: 3713
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10577
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1449
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6510
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1055
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31550
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.25e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

FS
type: SiteQuality
SIO_000300: 2.545e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.67e0

QD
type: SiteQuality
SIO_000300: 1.573e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.989125e6

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

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3135
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3709
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6509
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1055
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.352e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

DP
type: SiteQuality
SIO_000300: 1.988855e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.2489e1

QD
type: SiteQuality
SIO_000300: 1.451e1

VQSLOD
type: SiteQuality
SIO_000300: -3.541e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3708
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2489
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

FS
type: SiteQuality
SIO_000300: 5.989e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.988545e6

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.657e0

QD
type: SiteQuality
SIO_000300: 1.381e1

VQSLOD
type: SiteQuality
SIO_000300: -7.479e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e0

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

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3682
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31183
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.575e1

DP
type: SiteQuality
SIO_000300: 1.977015e6

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

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

GenotypeQuality
all individuals: 231
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3052
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6492
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10246
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3643
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508750754375377e-5
allele num: 66280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.84e-1

MQ
type: SiteQuality
SIO_000300: 5.859e1

VQSLOD
type: SiteQuality
SIO_000300: -2.104e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 2.335e1

DP
type: SiteQuality
SIO_000300: 1.957386e6

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2440
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0