14-24538637-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24538637
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24538637
    reference: chr 14
allele count: 2
allele frequency: 1.652701340340787e-5
allele num: 121014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000560349
  gene symbol: LRRC16B
  hgvsc: ENST00000560349.1:n.2368G>C
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000559694
  gene symbol: LRRC16B
  hgvsc: ENST00000559694.1:n.4021G>C
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000340467
  ensembl transcript: ENST00000342740
  gene symbol: LRRC16B
  hgvsc: ENST00000342740.5:c.*24G>C
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000334701
  ensembl transcript: ENST00000334420
  gene symbol: LRRC16B
  hgvsc: ENST00000334420.7:c.*24G>C
  variant of: http://identifiers.org/hgnc/20272
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

14-24538640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24538640
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24538640
    reference: chr 14
allele count: 2
allele frequency: 1.653575857792476e-5
allele num: 120950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000560349
  gene symbol: LRRC16B
  hgvsc: ENST00000560349.1:n.2371C>T
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000334701
  ensembl transcript: ENST00000334420
  gene symbol: LRRC16B
  hgvsc: ENST00000334420.7:c.*27C>T
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000559694
  gene symbol: LRRC16B
  hgvsc: ENST00000559694.1:n.4024C>T
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000340467
  ensembl transcript: ENST00000342740
  gene symbol: LRRC16B
  hgvsc: ENST00000342740.5:c.*27C>T
  variant of: http://identifiers.org/hgnc/20272
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4759
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10052
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

14-24538642-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24538642
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24538642
    reference: chr 14
allele count: 2
allele frequency: 1.654068180690408e-5
allele num: 120914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000334701
  ensembl transcript: ENST00000334420
  gene symbol: LRRC16B
  hgvsc: ENST00000334420.7:c.*29C>T
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000340467
  ensembl transcript: ENST00000342740
  gene symbol: LRRC16B
  hgvsc: ENST00000342740.5:c.*29C>T
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000559694
  gene symbol: LRRC16B
  hgvsc: ENST00000559694.1:n.4026C>T
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000560349
  gene symbol: LRRC16B
  hgvsc: ENST00000560349.1:n.2373C>T
  variant of: http://identifiers.org/hgnc/20272
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15486
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8655
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genotype quality: GenotypeQuality
  all individuals: 22453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

14-24538643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24538643
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24538643
    reference: chr 14
allele count: 2
allele frequency: 1.654232353476369e-5
allele num: 120902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000560349
  gene symbol: LRRC16B
  hgvsc: ENST00000560349.1:n.2374G>A
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000559694
  gene symbol: LRRC16B
  hgvsc: ENST00000559694.1:n.4027G>A
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000334701
  ensembl transcript: ENST00000334420
  gene symbol: LRRC16B
  hgvsc: ENST00000334420.7:c.*30G>A
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000340467
  ensembl transcript: ENST00000342740
  gene symbol: LRRC16B
  hgvsc: ENST00000342740.5:c.*30G>A
  variant of: http://identifiers.org/hgnc/20272
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17010
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10028
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22540
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

14-24538643-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24538643
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24538643
    reference: chr 14
allele count: 2
allele frequency: 1.654232353476369e-5
allele num: 120902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000560349
  gene symbol: LRRC16B
  hgvsc: ENST00000560349.1:n.2374G>C
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000559694
  gene symbol: LRRC16B
  hgvsc: ENST00000559694.1:n.4027G>C
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000334701
  ensembl transcript: ENST00000334420
  gene symbol: LRRC16B
  hgvsc: ENST00000334420.7:c.*30G>C
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000340467
  ensembl transcript: ENST00000342740
  gene symbol: LRRC16B
  hgvsc: ENST00000342740.5:c.*30G>C
  variant of: http://identifiers.org/hgnc/20272
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10028
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

14-24538646-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24538646
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24538646
    reference: chr 14
allele count: 2
allele frequency: 1.654697686732634e-5
allele num: 120868
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000340467
  ensembl transcript: ENST00000342740
  gene symbol: LRRC16B
  hgvsc: ENST00000342740.5:c.*33A>G
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000560349
  gene symbol: LRRC16B
  hgvsc: ENST00000560349.1:n.2377A>G
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000334701
  ensembl transcript: ENST00000334420
  gene symbol: LRRC16B
  hgvsc: ENST00000334420.7:c.*33A>G
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000559694
  gene symbol: LRRC16B
  hgvsc: ENST00000559694.1:n.4030A>G
  variant of: http://identifiers.org/hgnc/20272
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3855
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21206
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

14-24538652-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24538652
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24538652
    reference: chr 14
allele count: 1
allele frequency: 8.291048983517394e-6
allele num: 120612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000559694
  gene symbol: LRRC16B
  hgvsc: ENST00000559694.1:n.4036C>G
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000560349
  gene symbol: LRRC16B
  hgvsc: ENST00000560349.1:n.2383C>G
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000334701
  ensembl transcript: ENST00000334420
  gene symbol: LRRC16B
  hgvsc: ENST00000334420.7:c.*39C>G
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000340467
  ensembl transcript: ENST00000342740
  gene symbol: LRRC16B
  hgvsc: ENST00000342740.5:c.*39C>G
  variant of: http://identifiers.org/hgnc/20272
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13640
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3820
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10012
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 857
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1781
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

14-24538652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24538652
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24538652
    reference: chr 14
allele count: 2
allele frequency: 1.658209796703479e-5
allele num: 120612
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000340467
  ensembl transcript: ENST00000342740
  gene symbol: LRRC16B
  hgvsc: ENST00000342740.5:c.*39C>T
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000560349
  gene symbol: LRRC16B
  hgvsc: ENST00000560349.1:n.2383C>T
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000334701
  ensembl transcript: ENST00000334420
  gene symbol: LRRC16B
  hgvsc: ENST00000334420.7:c.*39C>T
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000559694
  gene symbol: LRRC16B
  hgvsc: ENST00000559694.1:n.4036C>T
  variant of: http://identifiers.org/hgnc/20272
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13640
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16385
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 64
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genotype quality: GenotypeQuality
  all individuals: 1186
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genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

14-24538654-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24538654
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24538654
    reference: chr 14
allele count: 3
allele frequency: 2.488882989314396e-5
allele num: 120536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000559694
  gene symbol: LRRC16B
  hgvsc: ENST00000559694.1:n.4038C>T
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000334701
  ensembl transcript: ENST00000334420
  gene symbol: LRRC16B
  hgvsc: ENST00000334420.7:c.*41C>T
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000340467
  ensembl transcript: ENST00000342740
  gene symbol: LRRC16B
  hgvsc: ENST00000342740.5:c.*41C>T
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000560349
  gene symbol: LRRC16B
  hgvsc: ENST00000560349.1:n.2385C>T
  variant of: http://identifiers.org/hgnc/20272
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7989
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10006
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

14-24538655-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24538655
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24538655
    reference: chr 14
allele count: 9
allele frequency: 7.475083056478405e-5
allele num: 120400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000340467
  ensembl transcript: ENST00000342740
  gene symbol: LRRC16B
  hgvsc: ENST00000342740.5:c.*42G>A
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000334701
  ensembl transcript: ENST00000334420
  gene symbol: LRRC16B
  hgvsc: ENST00000334420.7:c.*42G>A
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000560349
  gene symbol: LRRC16B
  hgvsc: ENST00000560349.1:n.2386G>A
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000559694
  gene symbol: LRRC16B
  hgvsc: ENST00000559694.1:n.4039G>A
  variant of: http://identifiers.org/hgnc/20272
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13913
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7901
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-24538655-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24538655
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24538655
    reference: chr 14
allele count: 1
allele frequency: 8.305647840531562e-6
allele num: 120400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000334701
  ensembl transcript: ENST00000334420
  gene symbol: LRRC16B
  hgvsc: ENST00000334420.7:c.*42G>C
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000559694
  gene symbol: LRRC16B
  hgvsc: ENST00000559694.1:n.4039G>C
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000340467
  ensembl transcript: ENST00000342740
  gene symbol: LRRC16B
  hgvsc: ENST00000342740.5:c.*42G>C
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000560349
  gene symbol: LRRC16B
  hgvsc: ENST00000560349.1:n.2386G>C
  variant of: http://identifiers.org/hgnc/20272
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13913
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9996
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

14-24538655-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24538655
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24538655
    reference: chr 14
allele count: 1
allele frequency: 8.305647840531562e-6
allele num: 120400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000334701
  ensembl transcript: ENST00000334420
  gene symbol: LRRC16B
  hgvsc: ENST00000334420.7:c.*42G>T
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000340467
  ensembl transcript: ENST00000342740
  gene symbol: LRRC16B
  hgvsc: ENST00000342740.5:c.*42G>T
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000560349
  gene symbol: LRRC16B
  hgvsc: ENST00000560349.1:n.2386G>T
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000559694
  gene symbol: LRRC16B
  hgvsc: ENST00000559694.1:n.4039G>T
  variant of: http://identifiers.org/hgnc/20272
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7901
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/14-24538656-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24538656
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24538656
    reference: chr 14
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000560349
  gene symbol: LRRC16B
  hgvsc: ENST00000560349.1:n.2387C>A
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000334701
  ensembl transcript: ENST00000334420
  gene symbol: LRRC16B
  hgvsc: ENST00000334420.7:c.*43C>A
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186648
  ensembl transcript: ENST00000559694
  gene symbol: LRRC16B
  hgvsc: ENST00000559694.1:n.4040C>A
  variant of: http://identifiers.org/hgnc/20272
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186648
  ensembl protein: ENSP00000340467
  ensembl transcript: ENST00000342740
  gene symbol: LRRC16B
  hgvsc: ENST00000342740.5:c.*43C>A
  variant of: http://identifiers.org/hgnc/20272
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4446
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6915
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

14-24540174-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540174
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540174
    reference: chr 14
allele count: 1
allele frequency: 9.437523593808984e-5
allele num: 10596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-130C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-193C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.-18C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.17C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-183C>T
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-24540192-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540192
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540192
    reference: chr 14
allele count: 1
allele frequency: 9.377344336084021e-5
allele num: 10664
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.1A>C
  hgvsp: ENSP00000440077.1:p.Met1?
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-175A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.35A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-120+8A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-165A>C
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

14-24540209-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540209
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540209
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 10708
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-148C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.52C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-158C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.18C>T
  hgvsp: ENST00000537691.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-120+25C>T
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His6His
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

14-24540210-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540210
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540210
    reference: chr 14
allele count: 1
allele frequency: 9.333582228859437e-5
allele num: 10714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-157G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-147G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.19G>A
  hgvsp: ENSP00000440077.1:p.Gly7Arg
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-120+26G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.53G>A
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly7Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

14-24540228-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540228
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540228
    reference: chr 14
allele count: 3
allele frequency: 2.799029669714499e-4
allele num: 10718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-224T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.37T>C
  hgvsp: ENSP00000440077.1:p.Cys13Arg
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-129T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-139T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.71T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-120+44T>C
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys13Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

14-24540248-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540248
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540248
    reference: chr 14
allele count: 3
allele frequency: 2.799552071668533e-4
allele num: 10716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-120+1G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.46+11G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.91G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-120+11G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-120+64G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-204G>A
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 388
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: c.-120+1G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

14-24540287-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540287
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540287
    reference: chr 14
allele count: 2
allele frequency: 1.877934272300469e-4
allele num: 10650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.130A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-120+103A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-120+40A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-165A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.46+50A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-120+50A>G
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

14-24540689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540689
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540689
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 9908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.47-47C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-119-47C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-166C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-119-47C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.532C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-163-47C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-119-47C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-106-60C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-47+45C>T
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13235
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

14-24540690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540690
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540690
    reference: chr 14
allele count: 1
allele frequency: 1.006846556584777e-4
allele num: 9932
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-119-46G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-106-59G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.47-46G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.533G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-119-46G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-47+46G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-163-46G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-119-46G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-165G>A
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12945
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10011
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

14-24540691-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540691
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540692
    reference: chr 14
allele count: 7
allele frequency: 7.20164609053498e-4
allele num: 9720
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-106-52dupG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-119-39dupG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.540dupG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-119-39dupG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.47-39dupG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-119-39dupG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-163-39dupG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-158dupG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-47+53dupG
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP

14-24540696-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540696
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540696
    reference: chr 14
allele count: 1
allele frequency: 9.948269001193792e-5
allele num: 10052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-159G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-119-40G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.47-40G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-119-40G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-163-40G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-47+52G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.539G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-119-40G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-106-53G>A
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

14-24540710-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540710
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540711
    reference: chr 14
allele count: 22
allele frequency: 3.005464480874317e-3
allele num: 7320
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-47+75dupC
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-163-17dupC
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-136dupC
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-119-17dupC
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.562dupC
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.47-17dupC
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-119-17dupC
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-106-30dupC
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-119-17dupC
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-24540710-G-GCCCCCCCCCCCCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540710
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540724
    reference: chr 14
allele count: 2
allele frequency: 2.73224043715847e-4
allele num: 7320
alternate allele: GCCCCCCCCCCCCCC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-24540710-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540710
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540709
    reference: chr 14
allele count: 1354
allele frequency: 1.849726775956284e-1
allele num: 7320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-119-17delC
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.562delC
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-136delC
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-119-17delC
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-47+75delC
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-106-30delC
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-163-17delC
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-119-17delC
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.47-17delC
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.25e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.5e0
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 2.75e1
  variant carriers: 239
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 2.5e0
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.75e1
  variant carriers: 311
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 2.25e1
  variant carriers: 338
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 6.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 5652
  bin: 7.5e0
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 1.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 31
num of homozygotes: 116
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: GC
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-24540712-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540712
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540712
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 5904
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-119-24C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-119-24C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-143C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-47+68C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.555C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.47-24C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-119-24C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-163-24C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-106-37C>G
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7456
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

14-24540719-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540719
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540719
    reference: chr 14
allele count: 21
allele frequency: 2.053588891061999e-3
allele num: 10226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-163-17C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-119-17C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-106-30C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-136C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.562C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.47-17C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-47+75C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-119-17C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-119-17C>T
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.75e1
  variant carriers: 19
num of homozygotes: 1
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/14-24540719-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540719
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540718
    reference: chr 14
allele count: 2
allele frequency: 1.95579894386857e-4
allele num: 10226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-106-29delA
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.47-16delA
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-163-16delA
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-135delA
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.563delA
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-119-16delA
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-119-16delA
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-119-16delA
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-47+76delA
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6496
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: CA
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/14-24540720-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540720
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540720
    reference: chr 14
allele count: 1710
allele frequency: 2.932098765432099e-1
allele num: 5832
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-47+76A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.563A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-119-16A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-135A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.47-16A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-119-16A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-119-16A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-106-29A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-163-16A>C
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 2.75e1
  variant carriers: 367
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 2.25e1
  variant carriers: 522
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.25e1
  variant carriers: 217
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 8245
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.75e1
  variant carriers: 486
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.25e1
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.5e0
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 5896
  bin: 7.5e0
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.25e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 6.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 49
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

14-24540725-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540725
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540725
    reference: chr 14
allele count: 1136
allele frequency: 1.758513931888545e-1
allele num: 6460
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-119-11T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-119-11T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.568T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-106-24T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-119-11T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-130T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.47-11T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-163-11T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-47+81T>C
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 2.75e1
  variant carriers: 253
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.25e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 2.25e1
  variant carriers: 335
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 221
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 15
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

14-24540729-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540729
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540727
    reference: chr 14
allele count: 6
allele frequency: 5.435767349157456e-4
allele num: 11038
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-119-6_-119-5delAT
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-163-6_-163-5delAT
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-46-79_-46-78delAT
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-119-6_-119-5delAT
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-125_-124delAT
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.573_574delAT
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.47-6_47-5delAT
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-119-6_-119-5delAT
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-106-19_-106-18delAT
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
hgvs: c.-119-6_-119-5delAT
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: CAT
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

14-24540729-CATCCAGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540729
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540722
    reference: chr 14
allele count: 1
allele frequency: 9.05961224859576e-5
allele num: 11038
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-106-19_-106-13delATCCAGG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-46-79_-46-73delATCCAGG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.47-6_47delATCCAGG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-125_-119delATCCAGG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.573_579delATCCAGG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-119-6_-119delATCCAGG
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: CATCCAGG
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/14-24540730-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540730
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540730
    reference: chr 14
allele count: 3
allele frequency: 4.271070615034169e-4
allele num: 7024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-119-6A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-46-79A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.47-6A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.573A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-119-6A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-125A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-106-19A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-163-6A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-119-6A>C
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
hgvs: c.-119-6A>C
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

14-24540733-CAGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540733
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540730
    reference: chr 14
allele count: 2
allele frequency: 1.830161054172767e-4
allele num: 10928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.1_3delAGG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-119-2_-119delAGG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-119-2_-119delAGG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-119-2_-119delAGG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-106-15_-106-13delAGG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-509_-507delAGG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.47-2_47delAGG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-163-2_-163delAGG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-46-75_-46-73delAGG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-121_-119delAGG
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.577_579delAGG
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-119-2_-119delAGG
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: CAGG
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

14-24540758-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540758
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540758
    reference: chr 14
allele count: 1
allele frequency: 8.871540099361249e-5
allele num: 11272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.69C>T
  hgvsp: ENST00000537691.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-97C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-97C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-141C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.601C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-97C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.25C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-485C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-97C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-97C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-97C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-97C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-46-51C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-97C>T
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala23Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

14-24540761-A-AGCTGGAGCCGGCGCCAGCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540761
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540780
    reference: chr 14
allele count: 1
allele frequency: 8.838607035531201e-5
allele num: 11314
alternate allele: AGCTGGAGCCGGCGCCAGCG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsp: ENSP00000440077.1:p.Ser34ArgfsTer28
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser34ArgfsTer28
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

14-24540765-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540765
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540765
    reference: chr 14
allele count: 3
allele frequency: 2.644103648863035e-4
allele num: 11346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.32G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-478G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-90G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-134G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.76G>A
  hgvsp: ENSP00000440077.1:p.Gly26Arg
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-90G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-90G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-90G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-90G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-90G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.608G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-46-44G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-90G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-90G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-90G>A
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly26Arg
num of homozygotes: 1
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

14-24540766-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540766
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540766
    reference: chr 14
allele count: 2
allele frequency: 1.76056338028169e-4
allele num: 11360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-89G>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-477G>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-89G>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.77G>C
  hgvsp: ENSP00000440077.1:p.Gly26Ala
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-89G>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.33G>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.609G>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-89G>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-89G>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-89G>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-46-43G>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-133G>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-89G>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-89G>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-89G>C
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly26Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

14-24540770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540770
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540770
    reference: chr 14
allele count: 1
allele frequency: 8.784258608573436e-5
allele num: 11384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.81C>T
  hgvsp: ENST00000537691.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-85C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-85C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-85C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-85C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-85C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-473C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-85C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-85C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.613C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-85C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-85C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-129C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-46-39C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.37C>T
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala27Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

14-24540791-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540791
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540791
    reference: chr 14
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.58C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.634C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.-64C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.102C>G
  hgvsp: ENSP00000440077.1:p.Ser34Arg
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-64C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-64C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-64C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-64C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-237C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-452C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-64C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-108C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-64C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-64C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-64C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-64C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-46-18C>G
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13008
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser34Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

14-24540821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540821
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540821
    reference: chr 14
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.88G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-207G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-34G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-78G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.664G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-422G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.132G>A
  hgvsp: ENST00000537691.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.24G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-34G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro44Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

14-24540837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540837
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540837
    reference: chr 14
allele count: 1
allele frequency: 8.80126738250308e-5
allele num: 11362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-18G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-18G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-62G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.148G>A
  hgvsp: ENSP00000440077.1:p.Asp50Asn
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.680G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.104G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.40G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-406G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-191G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp50Asn
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS

14-24540841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540841
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540841
    reference: chr 14
allele count: 2
allele frequency: 1.775568181818182e-4
allele num: 11264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.684G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.44G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-402G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-187G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.152G>A
  hgvsp: ENSP00000440077.1:p.Arg51Gln
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-58G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.108G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-14G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-14G>A
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25135
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg51Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum

14-24540843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540843
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540843
    reference: chr 14
allele count: 2
allele frequency: 1.791472590469366e-4
allele num: 11164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-185G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-400G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-12G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-56G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.154G>A
  hgvsp: ENSP00000440077.1:p.Glu52Lys
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.686G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-12G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.110G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.46G>A
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu52Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum

14-24540868-CCCCAGCCCAGCCCCAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540868
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540852
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 10776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29295
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: CCCCAGCCCAGCCCCAG
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

14-24540886-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540886
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540886
    reference: chr 14
allele count: 4
allele frequency: 3.871467286101432e-4
allele num: 10332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-5+36C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-393+36C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-5+36C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-49+36C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.161+36C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.693+36C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-5+36C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.-5+36C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-178+36C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.89C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-5+36C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-5+36C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-5+36C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-5+36C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.117+36C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-5+36C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-5+36C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-5+36C>T
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30156
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-24540887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540887
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540887
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 10258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-5+37C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-5+37C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.-5+37C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-5+37C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.161+37C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-5+37C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-5+37C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.117+37C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-178+37C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-49+37C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-5+37C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-5+37C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.693+37C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.90C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-5+37C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-5+37C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-5+37C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-393+37C>T
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

14-24540888-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24540888
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24540888
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 10290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-5+38A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.117+38A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-5+38A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-5+38A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-178+38A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-49+38A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-5+38A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-5+38A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-5+38A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-5+38A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-5+38A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.91A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-5+38A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.-5+38A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.693+38A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.161+38A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-393+38A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-5+38A>G
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

14-24542099-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542099
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542099
    reference: chr 14
allele count: 82
allele frequency: 1.030331967934059e-3
allele num: 79586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-47T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-4-43T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.162-43T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.-4-43T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-4-43T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-4-43T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-4-43T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.118-609T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-4-43T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-4-43T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-177-1161T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.694-43T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.1302T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-4-43T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-4-43T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-4-43T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-609T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-4-43T>G
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11283
  bin: 1.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
hgvs: c.-47T>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

14-24542099-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542099
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542099
    reference: chr 14
allele count: 3
allele frequency: 3.769507199758752e-5
allele num: 79586
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.1302T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-4-43T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-4-43T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-609T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-47T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.-4-43T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-4-43T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.694-43T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-4-43T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-4-43T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.118-609T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-4-43T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-177-1161T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.162-43T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-4-43T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-4-43T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-4-43T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-4-43T>C
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 11283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20206
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-47T>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

14-24542100-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542100
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542100
    reference: chr 14
allele count: 2
allele frequency: 2.341317225070825e-5
allele num: 85422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-4-42G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-4-42G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-4-42G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.162-42G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-4-42G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-177-1160G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-4-42G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-4-42G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.694-42G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-4-42G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.-4-42G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.1303G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.118-608G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-4-42G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-4-42G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-608G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-4-42G>A
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10388
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-46G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

14-24542115-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542115
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542115
    reference: chr 14
allele count: 12
allele frequency: 1.371742112482853e-4
allele num: 87480
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.1318T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-177-1145T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-31T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-4-27T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-4-27T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.-4-27T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-4-27T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.118-593T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-4-27T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-593T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-4-27T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.694-27T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.162-27T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-4-27T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-4-27T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-4-27T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-4-27T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-4-27T>C
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16810
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-24542134-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542134
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542134
    reference: chr 14
allele count: 1
allele frequency: 1.056189269117026e-5
allele num: 94680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-4-8C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.118-574C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-4-8C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-4-8C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.1337C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.-4-8C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-4-8C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-4-8C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.162-8C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-574C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-4-8C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-4-8C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-4-8C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-4-8C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.694-8C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-12C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-177-1126C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-4-8C>A
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29271
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.-4-8C>A
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

14-24542140-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542140
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542140
    reference: chr 14
allele count: 2
allele frequency: 2.059223260985956e-5
allele num: 97124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-4-2A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.162-2A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.694-2A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-4-2A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.118-568A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-568A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-4-2A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-4-2A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-4-2A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-4-2A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.-4-2A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-177-1120A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-4-2A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-6A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-4-2A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-4-2A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-4-2A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.1343A>G
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-4-2A>G
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

14-24542141-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542141
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542141
    reference: chr 14
allele count: 1
allele frequency: 1.026251513720983e-5
allele num: 97442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-4-1G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-4-1G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-4-1G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-4-1G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-4-1G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-177-1119G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.-4-1G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.162-1G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-4-1G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.694-1G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.1344G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.118-567G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-4-1G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-567G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-4-1G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-4-1G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-4-1G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-5G>A
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31237
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-4-1G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

14-24542145-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542145
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542145
    reference: chr 14
allele count: 1
allele frequency: 1.013705295596464e-5
allele num: 98648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.-1C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.697C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.165C>G
  hgvsp: ENSP00000440077.1:p.Asp55Glu
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.-1C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.118-563C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-563C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-177-1115C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.1348C>G
  variant of: http://identifiers.org/hgnc/2319
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10641
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp55Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum

14-24542151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542151
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542151
    reference: chr 14
allele count: 5
allele frequency: 4.991713755166424e-5
allele num: 100166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.6G>A
  hgvsp: ENST00000558450.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.6G>A
  hgvsp: ENST00000560356.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.6G>A
  hgvsp: ENST00000559778.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.703G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-557G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.6G>A
  hgvsp: ENST00000560761.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.6G>A
  hgvsp: ENST00000558795.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.6G>A
  hgvsp: ENST00000557889.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.6G>A
  hgvsp: ENST00000560884.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.6G>A
  hgvsp: ENST00000397016.2:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.6G>A
  hgvsp: ENST00000558541.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.171G>A
  hgvsp: ENST00000537691.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.6G>A
  hgvsp: ENST00000216775.2:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.6G>A
  hgvsp: ENST00000559197.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.6G>A
  hgvsp: ENST00000560828.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.1354G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-177-1109G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.118-557G>A
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser2Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

14-24542161-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542161
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542161
    reference: chr 14
allele count: 1
allele frequency: 9.789525208027411e-6
allele num: 102150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.181A>G
  hgvsp: ENSP00000440077.1:p.Met61Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.16A>G
  hgvsp: ENSP00000453352.1:p.Met6Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.16A>G
  hgvsp: ENSP00000380211.2:p.Met6Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.16A>G
  hgvsp: ENSP00000454075.1:p.Met6Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.16A>G
  hgvsp: ENSP00000454192.1:p.Met6Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-177-1099A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.16A>G
  hgvsp: ENSP00000453261.1:p.Met6Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.16A>G
  hgvsp: ENSP00000452826.1:p.Met6Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.16A>G
  hgvsp: ENSP00000454172.1:p.Met6Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.713A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.16A>G
  hgvsp: ENSP00000453483.1:p.Met6Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.16A>G
  hgvsp: ENSP00000452884.1:p.Met6Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-547A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.16A>G
  hgvsp: ENSP00000454093.1:p.Met6Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.118-547A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.1364A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.16A>G
  hgvsp: ENSP00000454166.1:p.Met6Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.16A>G
  hgvsp: ENSP00000216775.2:p.Met6Val
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met6Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

14-24542171-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542171
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542171
    reference: chr 14
allele count: 1
allele frequency: 9.693491789612455e-6
allele num: 103162
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.26T>G
  hgvsp: ENSP00000452826.1:p.Val9Gly
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.26T>G
  hgvsp: ENSP00000453483.1:p.Val9Gly
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.26T>G
  hgvsp: ENSP00000216775.2:p.Val9Gly
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.26T>G
  hgvsp: ENSP00000452884.1:p.Val9Gly
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.191T>G
  hgvsp: ENSP00000440077.1:p.Val64Gly
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.26T>G
  hgvsp: ENSP00000380211.2:p.Val9Gly
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.26T>G
  hgvsp: ENSP00000454172.1:p.Val9Gly
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.26T>G
  hgvsp: ENSP00000454192.1:p.Val9Gly
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.26T>G
  hgvsp: ENSP00000454075.1:p.Val9Gly
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.26T>G
  hgvsp: ENSP00000453261.1:p.Val9Gly
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.26T>G
  hgvsp: ENSP00000453352.1:p.Val9Gly
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.26T>G
  hgvsp: ENSP00000454093.1:p.Val9Gly
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.26T>G
  hgvsp: ENSP00000454166.1:p.Val9Gly
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.723T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-177-1089T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.118-537T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.1374T>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-537T>G
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val9Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/14-24542174-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542174
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542174
    reference: chr 14
allele count: 6
allele frequency: 5.798558091887817e-5
allele num: 103474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.29C>A
  hgvsp: ENSP00000452884.1:p.Pro10His
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.29C>A
  hgvsp: ENSP00000454192.1:p.Pro10His
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.29C>A
  hgvsp: ENSP00000454166.1:p.Pro10His
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-177-1086C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.726C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.118-534C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.29C>A
  hgvsp: ENSP00000454093.1:p.Pro10His
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.29C>A
  hgvsp: ENSP00000453352.1:p.Pro10His
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.194C>A
  hgvsp: ENSP00000440077.1:p.Pro65His
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.29C>A
  hgvsp: ENSP00000454075.1:p.Pro10His
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.29C>A
  hgvsp: ENSP00000380211.2:p.Pro10His
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.29C>A
  hgvsp: ENSP00000452826.1:p.Pro10His
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.29C>A
  hgvsp: ENSP00000453483.1:p.Pro10His
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.29C>A
  hgvsp: ENSP00000216775.2:p.Pro10His
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-534C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.1377C>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.29C>A
  hgvsp: ENSP00000454172.1:p.Pro10His
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.29C>A
  hgvsp: ENSP00000453261.1:p.Pro10His
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Pro10His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/14-24542184-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542184
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542184
    reference: chr 14
allele count: 1
allele frequency: 9.614645027305592e-6
allele num: 104008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.39A>C
  hgvsp: ENST00000560884.1:c.39A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.118-524A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.39A>C
  hgvsp: ENST00000560828.1:c.39A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.39A>C
  hgvsp: ENST00000558541.1:c.39A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.1387A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.39A>C
  hgvsp: ENST00000397016.2:c.39A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.39A>C
  hgvsp: ENST00000216775.2:c.39A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.39A>C
  hgvsp: ENST00000560761.1:c.39A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-177-1076A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.39A>C
  hgvsp: ENST00000558795.1:c.39A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.39A>C
  hgvsp: ENST00000559778.1:c.39A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-524A>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.39A>C
  hgvsp: ENST00000558450.1:c.39A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.39A>C
  hgvsp: ENST00000559197.1:c.39A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.204A>C
  hgvsp: ENST00000537691.1:c.204A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.39A>C
  hgvsp: ENST00000557889.1:c.39A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.39A>C
  hgvsp: ENST00000560356.1:c.39A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.736A>C
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro13Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

14-24542185-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542185
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542185
    reference: chr 14
allele count: 1
allele frequency: 9.620379812595001e-6
allele num: 103946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.737A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.40A>G
  hgvsp: ENSP00000453352.1:p.Thr14Ala
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.40A>G
  hgvsp: ENSP00000452884.1:p.Thr14Ala
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.40A>G
  hgvsp: ENSP00000454192.1:p.Thr14Ala
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.40A>G
  hgvsp: ENSP00000380211.2:p.Thr14Ala
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.118-523A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.40A>G
  hgvsp: ENSP00000453483.1:p.Thr14Ala
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.40A>G
  hgvsp: ENSP00000452826.1:p.Thr14Ala
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.205A>G
  hgvsp: ENSP00000440077.1:p.Thr69Ala
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.40A>G
  hgvsp: ENSP00000454093.1:p.Thr14Ala
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-177-1075A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.1388A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.40A>G
  hgvsp: ENSP00000216775.2:p.Thr14Ala
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.40A>G
  hgvsp: ENSP00000454075.1:p.Thr14Ala
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.40A>G
  hgvsp: ENSP00000453261.1:p.Thr14Ala
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.40A>G
  hgvsp: ENSP00000454166.1:p.Thr14Ala
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.40A>G
  hgvsp: ENSP00000454172.1:p.Thr14Ala
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-523A>G
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr14Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

14-24542188-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542188
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542188
    reference: chr 14
allele count: 2
allele frequency: 1.922892029612537e-5
allele num: 104010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.43A>G
  hgvsp: ENSP00000454075.1:p.Met15Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.43A>G
  hgvsp: ENSP00000453483.1:p.Met15Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.43A>G
  hgvsp: ENSP00000453352.1:p.Met15Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.43A>G
  hgvsp: ENSP00000380211.2:p.Met15Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.118-520A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.43A>G
  hgvsp: ENSP00000452826.1:p.Met15Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-520A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.43A>G
  hgvsp: ENSP00000454093.1:p.Met15Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.43A>G
  hgvsp: ENSP00000452884.1:p.Met15Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.43A>G
  hgvsp: ENSP00000454166.1:p.Met15Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.43A>G
  hgvsp: ENSP00000216775.2:p.Met15Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-177-1072A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.43A>G
  hgvsp: ENSP00000454172.1:p.Met15Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.43A>G
  hgvsp: ENSP00000453261.1:p.Met15Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.43A>G
  hgvsp: ENSP00000454192.1:p.Met15Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.208A>G
  hgvsp: ENSP00000440077.1:p.Met70Val
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.1391A>G
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.740A>G
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met15Val
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

14-24542192-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542192
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542192
    reference: chr 14
allele count: 1
allele frequency: 9.642085775995063e-6
allele num: 103712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.47C>T
  hgvsp: ENSP00000454075.1:p.Thr16Met
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.47C>T
  hgvsp: ENSP00000453483.1:p.Thr16Met
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.47C>T
  hgvsp: ENSP00000454192.1:p.Thr16Met
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.47C>T
  hgvsp: ENSP00000452884.1:p.Thr16Met
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.47C>T
  hgvsp: ENSP00000216775.2:p.Thr16Met
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-177-1068C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-516C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.47C>T
  hgvsp: ENSP00000380211.2:p.Thr16Met
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.744C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.47C>T
  hgvsp: ENSP00000453352.1:p.Thr16Met
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.47C>T
  hgvsp: ENSP00000452826.1:p.Thr16Met
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.47C>T
  hgvsp: ENSP00000454093.1:p.Thr16Met
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.47C>T
  hgvsp: ENSP00000454172.1:p.Thr16Met
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.212C>T
  hgvsp: ENSP00000440077.1:p.Thr71Met
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.47C>T
  hgvsp: ENSP00000453261.1:p.Thr16Met
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.1395C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.118-516C>T
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.47C>T
  hgvsp: ENSP00000454166.1:p.Thr16Met
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr16Met
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD

14-24542193-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542193
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542193
    reference: chr 14
allele count: 2
allele frequency: 1.9250760405036e-5
allele num: 103892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454166
  ensembl transcript: ENST00000557889
  gene symbol: CPNE6
  hgvsc: ENST00000557889.1:c.48G>A
  hgvsp: ENST00000557889.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000380211
  ensembl transcript: ENST00000397016
  gene symbol: CPNE6
  hgvsc: ENST00000397016.2:c.48G>A
  hgvsp: ENST00000397016.2:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453352
  ensembl transcript: ENST00000558541
  gene symbol: CPNE6
  hgvsc: ENST00000558541.1:c.48G>A
  hgvsp: ENST00000558541.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.48G>A
  hgvsp: ENST00000559778.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454192
  ensembl transcript: ENST00000560356
  gene symbol: CPNE6
  hgvsc: ENST00000560356.1:c.48G>A
  hgvsp: ENST00000560356.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453261
  ensembl transcript: ENST00000560828
  gene symbol: CPNE6
  hgvsc: ENST00000560828.1:c.48G>A
  hgvsp: ENST00000560828.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452884
  ensembl transcript: ENST00000560884
  gene symbol: CPNE6
  hgvsc: ENST00000560884.1:c.48G>A
  hgvsp: ENST00000560884.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454172
  ensembl transcript: ENST00000558795
  gene symbol: CPNE6
  hgvsc: ENST00000558795.1:c.48G>A
  hgvsp: ENST00000558795.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452826
  ensembl transcript: ENST00000559197
  gene symbol: CPNE6
  hgvsc: ENST00000559197.1:c.48G>A
  hgvsp: ENST00000559197.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.48G>A
  hgvsp: ENST00000558450.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000440077
  ensembl transcript: ENST00000537691
  gene symbol: CPNE6
  hgvsc: ENST00000537691.1:c.213G>A
  hgvsp: ENST00000537691.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000216775
  ensembl transcript: ENST00000216775
  gene symbol: CPNE6
  hgvsc: ENST00000216775.2:c.48G>A
  hgvsp: ENST00000216775.2:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000560092
  gene symbol: CPNE6
  hgvsc: ENST00000560092.1:n.118-515G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000460657
  gene symbol: CPNE6
  hgvsc: ENST00000460657.1:n.1396G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.48G>A
  hgvsp: ENST00000560761.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000452653
  ensembl transcript: ENST00000559207
  gene symbol: CPNE6
  hgvsc: ENST00000559207.1:c.-177-1067G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-515G>A
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.745G>A
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr16Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

14-24542203-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24542203
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24542203
    reference: chr 14
allele count: 1
allele frequency: 9.629272989889263e-6
allele num: 103850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454075
  ensembl transcript: ENST00000560761
  gene symbol: CPNE6
  hgvsc: ENST00000560761.1:c.58T>C
  hgvsp: ENSP00000454075.1:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453483
  ensembl transcript: ENST00000559778
  gene symbol: CPNE6
  hgvsc: ENST00000559778.1:c.58T>C
  hgvsp: ENSP00000453483.1:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000454093
  ensembl transcript: ENST00000558450
  gene symbol: CPNE6
  hgvsc: ENST00000558450.1:c.58T>C
  hgvsp: ENSP00000454093.1:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100884
  ensembl transcript: ENST00000558995
  gene symbol: CPNE6
  hgvsc: ENST00000558995.1:n.755T>C
  variant of: http://identifiers.org/hgnc/2319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100884
  ensembl protein: ENSP00000453326
  ensembl transcript: ENST00000558859
  gene symbol: CPNE6
  hgvsc: ENST00000558859.1:c.-392-505T>C
  variant of: http://identifiers.org/hgnc/2319
canonical: true
consequence: missense
filter: PASS
hgvs: p.Ser20Pro
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10057
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4789
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007337904486948e-5
allele num: 66504
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-2

QD
type: SiteQuality
SIO_000300: 1.267e1

VQSLOD
type: SiteQuality
SIO_000300: -1.947e0

MQRankSum
type: SiteQuality
SIO_000300: 2.49e0

DP
type: SiteQuality
SIO_000300: 2.107331e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.0003e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2700
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8755
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
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: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.787e0

QD
type: SiteQuality
SIO_000300: 1.176e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

DP
type: SiteQuality
SIO_000300: 2.100644e6

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

GenotypeQuality
all individuals: 398
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010144185906505e-5
allele num: 66442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.138e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.921e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.492e1

DP
type: SiteQuality
SIO_000300: 2.093862e6

GenotypeQuality
all individuals: 4697
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010325416177489e-5
allele num: 66438
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 2.092664e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 3.309e0

QD
type: SiteQuality
SIO_000300: 1.269e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

GenotypeQuality
all individuals: 22540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4697
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2686
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010325416177489e-5
allele num: 66438
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.309e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

DP
type: SiteQuality
SIO_000300: 2.092664e6

QD
type: SiteQuality
SIO_000300: 1.269e1

GenotypeQuality
all individuals: 10025
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 266
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011322572874006e-5
allele num: 66416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.16e0

VQSLOD
type: SiteQuality
SIO_000300: -8.779e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

QD
type: SiteQuality
SIO_000300: 1.285e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 2.07332e6

GenotypeQuality
all individuals: 1186
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3088
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50934283213089e-5
allele num: 66254
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.01268e6

FS
type: SiteQuality
SIO_000300: 6.029e0

VQSLOD
type: SiteQuality
SIO_000300: 3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.06e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.972e0

QD
type: SiteQuality
SIO_000300: 1.427e1

GenotypeQuality
all individuals: 726
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10012
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 2
allele frequency: 1.943634596695821e-4
allele num: 10290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66254
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

QD
type: SiteQuality
SIO_000300: 1.427e1

DP
type: SiteQuality
SIO_000300: 2.01268e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 6.029e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.972e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

GenotypeQuality
all individuals: 7063
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1892
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.532269760696157e-5
allele num: 66192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

QD
type: SiteQuality
SIO_000300: 1.603e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-1

FS
type: SiteQuality
SIO_000300: 9.61e-1

DP
type: SiteQuality
SIO_000300: 2.009074e6

GenotypeQuality
all individuals: 3024
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9996
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3784
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

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

Latino
type: Population
allele count: 8
allele frequency: 6.957731779439903e-4
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511761504505049e-5
allele num: 66148
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.326e0

DP
type: SiteQuality
SIO_000300: 2.00539e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

GenotypeQuality
all individuals: 1763
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3024
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3784
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511761504505049e-5
allele num: 66148
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

QD
type: SiteQuality
SIO_000300: 1.244e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.326e0

DP
type: SiteQuality
SIO_000300: 2.00539e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9996
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3784
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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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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ClippingRankSum
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DP
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InbreedingCoeff
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QD
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MQ
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.510710940568632e-5
allele num: 66194
num of homozygotes: 0

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

MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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FS
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VQSLOD
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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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European (Non-Finnish)
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South Asian
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Other
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European (Finnish)
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allele num: 0
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Latino
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African
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East Asian
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FS
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MQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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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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African
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allele frequency: 0.0e0
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Other
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Latino
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allele frequency: 0.0e0
allele num: 92
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2712
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European (Finnish)
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allele frequency: NaN
allele num: 0
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FS
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SIO_000300: 0.0e0

MQ
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QD
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DP
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.21e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.684598378776713e-4
allele num: 2714
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
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Other
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allele frequency: 0.0e0
allele num: 118
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East Asian
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.49e-2

ReadPosRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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ClippingRankSum
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SIO_000300: 2.01e-1

MQRankSum
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VQSLOD
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FS
type: SiteQuality
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QD
type: SiteQuality
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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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allele num: 7458
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2714
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Latino
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allele frequency: 0.0e0
allele num: 92
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
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African
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allele count: 0
allele frequency: 0.0e0
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Other
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InbreedingCoeff
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SIO_000300: -3.68e-2

FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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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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South Asian
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allele num: 7456
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Latino
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allele frequency: 1.08695652173913e-2
allele num: 92
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.374631268436578e-4
allele num: 2712
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
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East Asian
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allele frequency: 0.0e0
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Other
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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BaseQRankSum
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DP
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QD
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FS
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MQ
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MQRankSum
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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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Other
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European (Non-Finnish)
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African
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South Asian
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Latino
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European (Finnish)
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East Asian
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VQSLOD
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ClippingRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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DP
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FS
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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InbreedingCoeff
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VQSLOD
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QD
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FS
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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allele frequency: 4.424778761061947e-3
allele num: 226
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.325581395348837e-2
allele num: 86
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6684
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.620745542949757e-3
allele num: 2468
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.069999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

DP
type: SiteQuality
SIO_000300: 1.35188e5

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.445504481063891e-4
allele num: 6918
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.881e1

QD
type: SiteQuality
SIO_000300: 6.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: -2.313e0

MQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.41e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.428e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-1

DP
type: SiteQuality
SIO_000300: 1.37666e5

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 13

African
type: Population
allele count: 9
allele frequency: 5.421686746987952e-2
allele num: 166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.675368898978433e-4
allele num: 1762
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 2.335539120280265e-3
allele num: 5138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-1

DP
type: SiteQuality
SIO_000300: 1.43415e5

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.362e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.243e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.816e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 959
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variant carriers: 1

GenotypeQuality
all individuals: 118
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.892565200467108e-4
allele num: 5138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.816e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.243e-1

DP
type: SiteQuality
SIO_000300: 1.43415e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.362e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-1

GenotypeQuality
all individuals: 408
bin: 1.25e1
variant carriers: 41

GenotypeQuality
all individuals: 313
bin: 6.25e1
variant carriers: 25

GenotypeQuality
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variant carriers: 17

GenotypeQuality
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variant carriers: 25

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 26

GenotypeQuality
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GenotypeQuality
all individuals: 959
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variant carriers: 931

GenotypeQuality
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GenotypeQuality
all individuals: 24
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variant carriers: 20

GenotypeQuality
all individuals: 414
bin: 3.25e1
variant carriers: 27

South Asian
type: Population
allele count: 1123
allele frequency: 2.185675360062281e-1
allele num: 5138
num of homozygotes: 107

Latino
type: Population
allele count: 8
allele frequency: 1.212121212121212e-1
allele num: 66
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 155
allele frequency: 8.796821793416572e-2
allele num: 1762
num of homozygotes: 3

East Asian
type: Population
allele count: 26
allele frequency: 2.826086956521739e-1
allele num: 92
num of homozygotes: 2

African
type: Population
allele count: 19
allele frequency: 1.144578313253012e-1
allele num: 166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.0e0
allele num: 2
num of homozygotes: 1

Other
type: Population
allele count: 21
allele frequency: 2.234042553191489e-1
allele num: 94
num of homozygotes: 3

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 1.43415e5

QD
type: SiteQuality
SIO_000300: 1.362e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.243e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.816e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

GenotypeQuality
all individuals: 368
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variant carriers: 0

GenotypeQuality
all individuals: 374
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variant carriers: 1

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 327
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GenotypeQuality
all individuals: 31
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 387
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.94e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.5078e5

QD
type: SiteQuality
SIO_000300: 1.466e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 106
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
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GenotypeQuality
all individuals: 479
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GenotypeQuality
all individuals: 6496
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1106
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 235
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GenotypeQuality
all individuals: 35
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 7.190106413574921e-4
allele num: 6954
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 6.019563581640331e-3
allele num: 2658
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.43e-1

FS
type: SiteQuality
SIO_000300: 1.4456e1

DP
type: SiteQuality
SIO_000300: 1.58079e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.91e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: -7.662e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.340000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

QD
type: SiteQuality
SIO_000300: 1.54e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
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GenotypeQuality
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GenotypeQuality
all individuals: 24
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 410
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GenotypeQuality
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GenotypeQuality
all individuals: 154
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.876042565429968e-4
allele num: 6954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4456e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.662e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 1.58079e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.91e-1

QD
type: SiteQuality
SIO_000300: 1.54e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.340000000000001e-2

GenotypeQuality
all individuals: 289
bin: 1.75e1
variant carriers: 76

GenotypeQuality
all individuals: 84
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GenotypeQuality
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variant carriers: 63

GenotypeQuality
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GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 4675
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GenotypeQuality
all individuals: 165
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variant carriers: 75

GenotypeQuality
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GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 133
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GenotypeQuality
all individuals: 36
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GenotypeQuality
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variant carriers: 1027

GenotypeQuality
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GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 49

European (Non-Finnish)
type: Population
allele count: 411
allele frequency: 2.978260869565217e-1
allele num: 1380
num of homozygotes: 0

East Asian
type: Population
allele count: 46
allele frequency: 4.035087719298245e-1
allele num: 114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 31
allele frequency: 2.87037037037037e-1
allele num: 108
num of homozygotes: 0

Latino
type: Population
allele count: 22
allele frequency: 3.4375e-1
allele num: 64
num of homozygotes: 0

South Asian
type: Population
allele count: 1179
allele frequency: 2.881231671554252e-1
allele num: 4092
num of homozygotes: 0

Other
type: Population
allele count: 21
allele frequency: 2.837837837837838e-1
allele num: 74
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.796e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.959e-1

FS
type: SiteQuality
SIO_000300: 4.0269e1

VQSLOD
type: SiteQuality
SIO_000300: 4.29e0

MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.596e0

DP
type: SiteQuality
SIO_000300: 1.51454e5

QD
type: SiteQuality
SIO_000300: 5.18e0

GenotypeQuality
all individuals: 212
bin: 3.25e1
variant carriers: 9

GenotypeQuality
all individuals: 6761
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variant carriers: 15

GenotypeQuality
all individuals: 258
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GenotypeQuality
all individuals: 160
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variant carriers: 24

GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 64
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GenotypeQuality
all individuals: 492
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GenotypeQuality
all individuals: 249
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GenotypeQuality
all individuals: 560
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GenotypeQuality
all individuals: 115
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variant carriers: 17

GenotypeQuality
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GenotypeQuality
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DP
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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VQSLOD
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MQ
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QD
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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FS
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VQSLOD
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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European (Finnish)
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Other
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South Asian
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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VQSLOD
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DP
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QD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Other
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East Asian
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South Asian
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European (Finnish)
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQ
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QD
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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East Asian
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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African
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Other
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East Asian
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South Asian
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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QD
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DP
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MQ
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FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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Other
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African
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European (Finnish)
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MQ
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QD
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VQSLOD
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DP
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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MQ
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QD
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.943364797334814e-3
allele num: 3602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8912
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.482359916987845e-4
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num of homozygotes: 0

African
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allele count: 22
allele frequency: 3.241968759210138e-3
allele num: 6786
num of homozygotes: 0

European (Non-Finnish)
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allele count: 50
allele frequency: 1.070755525098509e-3
allele num: 46696
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.581277672359266e-4
allele num: 6324
num of homozygotes: 0

Other
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allele frequency: 1.923076923076923e-3
allele num: 520
num of homozygotes: 0

MQRankSum
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SIO_000300: 2.89e-1

MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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DP
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SIO_000300: 8.27453e5

QD
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SIO_000300: 1.59e0

ClippingRankSum
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SIO_000300: 5.2e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 6.424533150591056e-5
allele num: 46696
num of homozygotes: 0

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

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

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

Other
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: -2.12e-1

MQ
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SIO_000300: 6.0e1

VQSLOD
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DP
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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -2.698e0

QD
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.991060025542784e-5
allele num: 50112
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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num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 9.01e-1

ClippingRankSum
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SIO_000300: 3.22e-1

InbreedingCoeff
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SIO_000300: -4.2e-3

VQSLOD
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BaseQRankSum
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SIO_000300: -1.109e0

MQ
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SIO_000300: 6.0e1

MQRankSum
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QD
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DP
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SIO_000300: 8.38304e5

ReadPosRankSum
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SIO_000300: 3.22e-1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51162
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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allele count: 12
allele frequency: 1.751824817518248e-3
allele num: 6850
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.05e0

MQ
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MQRankSum
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ReadPosRankSum
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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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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 1
allele frequency: 1.201056930098487e-4
allele num: 8326
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54960
num of homozygotes: 0

African
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East Asian
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allele frequency: 0.0e0
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Other
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4812
num of homozygotes: 0

FS
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MQ
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

Other
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Latino
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South Asian
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East Asian
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African
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European (Non-Finnish)
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allele num: 56896
num of homozygotes: 0

ReadPosRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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FS
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QD
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MQ
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

European (Finnish)
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Other
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Latino
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East Asian
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European (Non-Finnish)
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allele num: 57590
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South Asian
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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DP
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BaseQRankSum
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MQRankSum
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FS
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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Other
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Latino
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South Asian
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DP
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FS
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QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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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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South Asian
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Other
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Latino
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African
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European (Non-Finnish)
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East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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Other
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 5.819592628516004e-4
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MQ
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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QD
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DP
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GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

East Asian
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allele 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

South Asian
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allele count: 1
allele frequency: 9.569377990430622e-5
allele num: 10450
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DP
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SIO_000300: 1.194665e6

MQ
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QD
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele frequency: 1.681972617485787e-5
allele num: 59454
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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QD
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InbreedingCoeff
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FS
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DP
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VQSLOD
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SIO_000300: -2.513e0

GenotypeDepth
all individuals: 8088
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5761
bin: 1.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 28166
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9895
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1122
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10991
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1796
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 74
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2209
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32472
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2702
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.369272237196766e-5
allele num: 59360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5432
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.223e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 1.193346e6

FS
type: SiteQuality
SIO_000300: 9.959e0

QD
type: SiteQuality
SIO_000300: 1.182e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2