14-66975199-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975199
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975199
    reference: chr 14
allele count: 4
allele frequency: 3.324578609661225e-5
allele num: 120316
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+593A>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.-47T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.-47T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.-47T>C
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40342
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

14-66975202-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975202
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975202
    reference: chr 14
allele count: 4
allele frequency: 3.323584153150758e-5
allele num: 120352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+590C>T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.-44G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.-44G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.-44G>A
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

14-66975202-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975202
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975202
    reference: chr 14
allele count: 63
allele frequency: 5.234645041212444e-4
allele num: 120352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.-44G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.-44G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.-44G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+590C>G
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 99
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

14-66975207-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975207
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975207
    reference: chr 14
allele count: 3
allele frequency: 2.4906600249066e-5
allele num: 120450
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+585G>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.-39C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.-39C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.-39C>T
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

14-66975210-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975210
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975210
    reference: chr 14
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.-36C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+582G>A
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40334
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

14-66975218-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975218
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975218
    reference: chr 14
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+574A>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.-28T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.-28T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.-28T>C
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40338
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

14-66975222-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975222
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975222
    reference: chr 14
allele count: 1
allele frequency: 8.277460475126231e-6
allele num: 120810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.-24A>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.-24A>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+570T>A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.-24A>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.-24A>T
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4677
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

14-66975228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975228
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975228
    reference: chr 14
allele count: 3
allele frequency: 2.481266438390154e-5
allele num: 120906
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+564C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.-18G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

14-66975230-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975230
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975230
    reference: chr 14
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+562C>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.-16G>A
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-66975231-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975231
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975231
    reference: chr 14
allele count: 4
allele frequency: 3.307151715584953e-5
allele num: 120950
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.-15A>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.-15A>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.-15A>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.-15A>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.-15A>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.-15A>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+561T>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.-15A>C
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

14-66975232-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975232
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975232
    reference: chr 14
allele count: 1
allele frequency: 8.267195767195768e-6
allele num: 120960
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.-14C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+560G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.-14C>T
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40337
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

14-66975236-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975236
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975236
    reference: chr 14
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.-10G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.-10G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.-10G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.-10G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.-10G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.-10G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.-10G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.-10G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.-10G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+556C>A
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

14-66975238-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975238
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975238
    reference: chr 14
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.-8T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.-8T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+554A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

14-66975238-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975238
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975238
    reference: chr 14
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.-8T>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.-8T>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.-8T>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.-8T>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.-8T>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.-8T>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.-8T>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.-8T>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+554A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.-8T>G
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

14-66975245-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975245
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975245
    reference: chr 14
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.-1C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.-1C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+547G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

14-66975265-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975265
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975265
    reference: chr 14
allele count: 2
allele frequency: 1.649892756970797e-5
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.20T>A
  hgvsp: ENSP00000438404.1:p.Ile7Asn
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+527A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.20T>A
  hgvsp: ENSP00000451790.1:p.Ile7Asn
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.20T>A
  hgvsp: ENSP00000303019.9:p.Ile7Asn
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.20T>A
  hgvsp: ENSP00000451056.1:p.Ile7Asn
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.20T>A
  hgvsp: ENSP00000417901.1:p.Ile7Asn
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.20T>A
  hgvsp: ENSP00000452220.1:p.Ile7Asn
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.20T>A
  hgvsp: ENSP00000451725.1:p.Ile7Asn
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.20T>A
  hgvsp: ENSP00000451935.1:p.Ile7Asn
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.20T>A
  hgvsp: ENSP00000312771.5:p.Ile7Asn
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile7Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

14-66975265-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975265
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975265
    reference: chr 14
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.20T>C
  hgvsp: ENSP00000312771.5:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.20T>C
  hgvsp: ENSP00000451935.1:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.20T>C
  hgvsp: ENSP00000417901.1:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.20T>C
  hgvsp: ENSP00000438404.1:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.20T>C
  hgvsp: ENSP00000451056.1:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.20T>C
  hgvsp: ENSP00000452220.1:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.20T>C
  hgvsp: ENSP00000451790.1:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.20T>C
  hgvsp: ENSP00000451725.1:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.20T>C
  hgvsp: ENSP00000303019.9:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+527A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile7Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

14-66975269-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975269
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975269
    reference: chr 14
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.24T>C
  hgvsp: ENST00000555668.1:c.24T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.24T>C
  hgvsp: ENST00000459628.1:c.24T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.24T>C
  hgvsp: ENST00000543237.1:c.24T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+523A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.24T>C
  hgvsp: ENST00000315266.5:c.24T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.24T>C
  hgvsp: ENST00000557654.1:c.24T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.24T>C
  hgvsp: ENST00000305960.9:c.24T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.24T>C
  hgvsp: ENST00000556633.1:c.24T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.24T>C
  hgvsp: ENST00000478722.1:c.24T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.24T>C
  hgvsp: ENST00000553936.1:c.24T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu8Leu
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: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

14-66975271-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975271
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975271
    reference: chr 14
allele count: 166
allele frequency: 1.369230261638457e-3
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.26C>G
  hgvsp: ENSP00000303019.9:p.Thr9Ser
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.26C>G
  hgvsp: ENSP00000451790.1:p.Thr9Ser
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+521G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.26C>G
  hgvsp: ENSP00000417901.1:p.Thr9Ser
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.26C>G
  hgvsp: ENSP00000452220.1:p.Thr9Ser
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.26C>G
  hgvsp: ENSP00000451056.1:p.Thr9Ser
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.26C>G
  hgvsp: ENSP00000438404.1:p.Thr9Ser
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.26C>G
  hgvsp: ENSP00000312771.5:p.Thr9Ser
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.26C>G
  hgvsp: ENSP00000451725.1:p.Thr9Ser
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.26C>G
  hgvsp: ENSP00000451935.1:p.Thr9Ser
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 9.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr9Ser
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

14-66975273-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975273
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975273
    reference: chr 14
allele count: 18
allele frequency: 1.484683020175193e-4
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.28A>T
  hgvsp: ENSP00000451790.1:p.Asn10Tyr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.28A>T
  hgvsp: ENSP00000451056.1:p.Asn10Tyr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.28A>T
  hgvsp: ENSP00000451725.1:p.Asn10Tyr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.28A>T
  hgvsp: ENSP00000452220.1:p.Asn10Tyr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.28A>T
  hgvsp: ENSP00000417901.1:p.Asn10Tyr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.28A>T
  hgvsp: ENSP00000312771.5:p.Asn10Tyr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.28A>T
  hgvsp: ENSP00000303019.9:p.Asn10Tyr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&pathogenic
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+519T>A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.28A>T
  hgvsp: ENSP00000451935.1:p.Asn10Tyr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.28A>T
  hgvsp: ENSP00000438404.1:p.Asn10Tyr
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn10Tyr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

14-66975279-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975279
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975279
    reference: chr 14
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.34G>C
  hgvsp: ENSP00000451790.1:p.Asp12His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.34G>C
  hgvsp: ENSP00000312771.5:p.Asp12His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.34G>C
  hgvsp: ENSP00000451725.1:p.Asp12His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.34G>C
  hgvsp: ENSP00000452220.1:p.Asp12His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.34G>C
  hgvsp: ENSP00000438404.1:p.Asp12His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.34G>C
  hgvsp: ENSP00000417901.1:p.Asp12His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+513C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.34G>C
  hgvsp: ENSP00000451056.1:p.Asp12His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.34G>C
  hgvsp: ENSP00000303019.9:p.Asp12His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.34G>C
  hgvsp: ENSP00000451935.1:p.Asp12His
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp12His
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

14-66975287-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975287
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975287
    reference: chr 14
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.42A>G
  hgvsp: ENST00000556633.1:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.42A>G
  hgvsp: ENST00000555668.1:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.42A>G
  hgvsp: ENST00000478722.1:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.42A>G
  hgvsp: ENST00000315266.5:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.42A>G
  hgvsp: ENST00000543237.1:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.42A>G
  hgvsp: ENST00000557654.1:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.42A>G
  hgvsp: ENST00000553936.1:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.42A>G
  hgvsp: ENST00000305960.9:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.42A>G
  hgvsp: ENST00000459628.1:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+505T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln14Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

14-66975288-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975288
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975288
    reference: chr 14
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.43A>T
  hgvsp: ENSP00000451790.1:p.Ile15Phe
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.43A>T
  hgvsp: ENSP00000312771.5:p.Ile15Phe
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.43A>T
  hgvsp: ENSP00000452220.1:p.Ile15Phe
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.43A>T
  hgvsp: ENSP00000451935.1:p.Ile15Phe
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.43A>T
  hgvsp: ENSP00000417901.1:p.Ile15Phe
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.43A>T
  hgvsp: ENSP00000451056.1:p.Ile15Phe
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.43A>T
  hgvsp: ENSP00000451725.1:p.Ile15Phe
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.43A>T
  hgvsp: ENSP00000303019.9:p.Ile15Phe
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.43A>T
  hgvsp: ENSP00000438404.1:p.Ile15Phe
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+504T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile15Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

14-66975292-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975292
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975292
    reference: chr 14
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.47G>A
  hgvsp: ENSP00000312771.5:p.Arg16His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.47G>A
  hgvsp: ENSP00000303019.9:p.Arg16His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.47G>A
  hgvsp: ENSP00000451790.1:p.Arg16His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+500C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.47G>A
  hgvsp: ENSP00000452220.1:p.Arg16His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.47G>A
  hgvsp: ENSP00000438404.1:p.Arg16His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.47G>A
  hgvsp: ENSP00000417901.1:p.Arg16His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.47G>A
  hgvsp: ENSP00000451935.1:p.Arg16His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.47G>A
  hgvsp: ENSP00000451056.1:p.Arg16His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.47G>A
  hgvsp: ENSP00000451725.1:p.Arg16His
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg16His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

14-66975294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975294
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975294
    reference: chr 14
allele count: 9
allele frequency: 7.420966704596052e-5
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.49G>A
  hgvsp: ENSP00000451790.1:p.Val17Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.49G>A
  hgvsp: ENSP00000451935.1:p.Val17Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.49G>A
  hgvsp: ENSP00000312771.5:p.Val17Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.49G>A
  hgvsp: ENSP00000451056.1:p.Val17Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.49G>A
  hgvsp: ENSP00000438404.1:p.Val17Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.49G>A
  hgvsp: ENSP00000451725.1:p.Val17Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.49G>A
  hgvsp: ENSP00000452220.1:p.Val17Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.49G>A
  hgvsp: ENSP00000303019.9:p.Val17Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+498C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.49G>A
  hgvsp: ENSP00000417901.1:p.Val17Ile
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val17Ile
num of homozygotes: 1
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

14-66975296-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975296
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975296
    reference: chr 14
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.51C>T
  hgvsp: ENST00000556633.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.51C>T
  hgvsp: ENST00000459628.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.51C>T
  hgvsp: ENST00000543237.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.51C>T
  hgvsp: ENST00000305960.9:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+496G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.51C>T
  hgvsp: ENST00000478722.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.51C>T
  hgvsp: ENST00000315266.5:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.51C>T
  hgvsp: ENST00000553936.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.51C>T
  hgvsp: ENST00000555668.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.51C>T
  hgvsp: ENST00000557654.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val17Val
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

14-66975302-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975302
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975302
    reference: chr 14
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.57C>T
  hgvsp: ENST00000459628.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.57C>T
  hgvsp: ENST00000555668.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.57C>T
  hgvsp: ENST00000553936.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.57C>T
  hgvsp: ENST00000478722.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.57C>T
  hgvsp: ENST00000556633.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+490G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.57C>T
  hgvsp: ENST00000543237.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.57C>T
  hgvsp: ENST00000315266.5:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.57C>T
  hgvsp: ENST00000557654.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.57C>T
  hgvsp: ENST00000305960.9:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val19Val
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

14-66975315-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975315
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975315
    reference: chr 14
allele count: 5
allele frequency: 4.123711340206185e-5
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+6C>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+6C>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+6C>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+6C>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+6C>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+6C>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+6C>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+6C>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+477G>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+6C>G
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 7.25e1
  variant carriers: 0
hgvs: c.64+6C>G
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

14-66975316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975316
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975316
    reference: chr 14
allele count: 3
allele frequency: 2.474145182839329e-5
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+7G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+7G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+7G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+7G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+7G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+7G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+7G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+7G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+476C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+7G>A
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: c.64+7G>A
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

14-66975316-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975316
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975316
    reference: chr 14
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+7G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+7G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+476C>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+7G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+7G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+7G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+7G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+7G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+7G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+7G>C
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 6.25e1
  variant carriers: 0
hgvs: c.64+7G>C
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

14-66975317-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975317
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975317
    reference: chr 14
allele count: 32
allele frequency: 2.63891408685326e-4
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+475C>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+8G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+8G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+8G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+8G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+8G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+8G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+8G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+8G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+8G>C
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 8.75e1
  variant carriers: 0
hgvs: c.64+8G>C
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

14-66975318-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975318
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975318
    reference: chr 14
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+9G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+9G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+9G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+9G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+9G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+9G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+474C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+9G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+9G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+9G>A
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

14-66975318-GGGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975318
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975315
    reference: chr 14
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+15_64+17delAGG
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+15_64+17delAGG
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+15_64+17delAGG
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+15_64+17delAGG
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+471_321+473delTCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+15_64+17delAGG
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+15_64+17delAGG
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+15_64+17delAGG
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+15_64+17delAGG
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+15_64+17delAGG
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GGGA
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

14-66975319-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975319
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975319
    reference: chr 14
allele count: 32
allele frequency: 2.639044665830969e-4
allele num: 121256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+10G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+10G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+10G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+10G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+10G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+10G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+10G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+10G>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+473C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+10G>C
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

14-66975319-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975319
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975319
    reference: chr 14
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+473C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+10G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+10G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+10G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+10G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+10G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+10G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+10G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+10G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+10G>T
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS

14-66975325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975325
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975325
    reference: chr 14
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+16G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+16G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+16G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+16G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+16G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+16G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+16G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+467C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+16G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+16G>A
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

14-66975335-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975335
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975335
    reference: chr 14
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+26C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+26C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+26C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+26C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+26C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+26C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+457G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+26C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+26C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+26C>T
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

14-66975337-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975337
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975337
    reference: chr 14
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+28A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+28A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+28A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+28A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+455T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+28A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+28A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+28A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+28A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+28A>G
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

14-66975339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975339
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975339
    reference: chr 14
allele count: 2
allele frequency: 1.649947201689546e-5
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+30G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+30G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+30G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+453C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+30G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+30G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+30G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+30G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+30G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+30G>A
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-66975343-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975343
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975343
    reference: chr 14
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+34C>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+34C>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+34C>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+34C>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+34C>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+34C>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+34C>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+34C>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+449G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+34C>A
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

14-66975346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975346
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975346
    reference: chr 14
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+37C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+37C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+37C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+37C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+37C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+446G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+37C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+37C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+37C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+37C>T
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

14-66975347-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975347
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975347
    reference: chr 14
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+38T>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+38T>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+38T>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+38T>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+38T>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+38T>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+38T>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+445A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+38T>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+38T>A
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

14-66975355-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975355
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975355
    reference: chr 14
allele count: 2
allele frequency: 1.650273945474949e-5
allele num: 121192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+46C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+46C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+46C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+46C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+46C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+46C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+46C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+46C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+46C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+437G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

14-66975356-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975356
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975356
    reference: chr 14
allele count: 2
allele frequency: 1.650328415354656e-5
allele num: 121188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+47A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+47A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+436T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+47A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+47A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+47A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+47A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+47A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+47A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+47A>G
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

14-66975357-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975357
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975357
    reference: chr 14
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+48T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+48T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+48T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+48T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+48T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+435A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+48T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+48T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+48T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+48T>C
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-66975361-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66975361
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 66975361
    reference: chr 14
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+52C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+52C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258561
  ensembl transcript: ENST00000556874
  gene symbol: RP11-72M17.1
  hgvsc: ENST00000556874.1:n.321+431G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+52C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+52C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+52C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+52C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+52C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.64+52C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+52C>T
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

14-67017778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67017778
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67017778
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 32
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+42469T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+42469T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.84T>C
  hgvsp: ENST00000553936.1:c.84T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+42469T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+42469T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+42469T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+42469T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+42469T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+42469T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.344+41658T>C
  variant of: http://identifiers.org/hgnc/15465
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg28Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

14-67017826-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67017826
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67017826
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.64+42517C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.64+42517C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.344+41706C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.64+42517C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*12C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.64+42517C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.64+42517C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.64+42517C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.64+42517C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.64+42517C>T
  variant of: http://identifiers.org/hgnc/15465
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

14-67147781-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147781
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147781
    reference: chr 14
allele count: 2
allele frequency: 1.759076836476217e-5
allele num: 113696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.65-44T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.65-44T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.65-44T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.65-44T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*86-44T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.65-44T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.65-44T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.65-44T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.345-44T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.65-44T>C
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16752
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

14-67147794-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147794
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147795
    reference: chr 14
allele count: 39
allele frequency: 3.503539473211398e-4
allele num: 111316
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.65-22dupT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.65-22dupT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.65-22dupT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.65-22dupT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.65-22dupT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*86-22dupT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.65-22dupT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.65-22dupT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.345-22dupT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.65-22dupT
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13124
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 21039
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 2.5e0
  variant carriers: 11
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-67147794-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147794
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147793
    reference: chr 14
allele count: 44
allele frequency: 3.952711200546193e-4
allele num: 111316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.65-22delT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*86-22delT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.345-22delT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.65-22delT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.65-22delT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.65-22delT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.65-22delT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.65-22delT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.65-22delT
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.65-22delT
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21039
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13124
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: AT
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

14-67147795-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147795
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147795
    reference: chr 14
allele count: 7
allele frequency: 6.280505311513064e-5
allele num: 111456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.65-30T>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.65-30T>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.65-30T>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.65-30T>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.65-30T>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.65-30T>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.345-30T>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.65-30T>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.65-30T>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*86-30T>A
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13325
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20851
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

14-67147808-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147808
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147808
    reference: chr 14
allele count: 1
allele frequency: 8.482339768601771e-6
allele num: 117892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*86-17T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.65-17T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.65-17T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.65-17T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.65-17T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.345-17T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.65-17T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.65-17T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.65-17T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.65-17T>C
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14971
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-67147813-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147813
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147813
    reference: chr 14
allele count: 11
allele frequency: 9.275655620204065e-5
allele num: 118590
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.65-12A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.65-12A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.345-12A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.65-12A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.65-12A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.65-12A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.65-12A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.65-12A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.65-12A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*86-12A>G
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15267
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10118
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

14-67147816-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147816
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147816
    reference: chr 14
allele count: 31845
allele frequency: 2.661067936826272e-1
allele num: 119670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.65-9T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*86-9T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.345-9T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.65-9T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.65-9T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.65-9T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.65-9T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.65-9T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.65-9T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.65-9T>C
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 4.75e1
  variant carriers: 2182
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 540
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.25e1
  variant carriers: 422
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 3.25e1
  variant carriers: 1331
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 5.75e1
  variant carriers: 2110
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 7.25e1
  variant carriers: 1343
genotype depth: GenotypeDepth
  all individuals: 15390
  bin: 2.25e1
  variant carriers: 512
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 9.75e1
  variant carriers: 4283
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 4.25e1
  variant carriers: 2032
genotype depth: GenotypeDepth
  all individuals: 10950
  bin: 2.75e1
  variant carriers: 867
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 6.25e1
  variant carriers: 1955
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.75e1
  variant carriers: 1731
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.25e1
  variant carriers: 288
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 366
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.5e0
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 5.25e1
  variant carriers: 2318
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 770
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.75e1
  variant carriers: 1653
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.75e1
  variant carriers: 1055
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 81
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 9
num of homozygotes: 6113
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

14-67147819-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147819
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147819
    reference: chr 14
allele count: 3
allele frequency: 2.502669514148425e-5
allele num: 119872
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.65-6A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.65-6A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.65-6A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.65-6A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.65-6A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.65-6A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.65-6A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*86-6A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.65-6A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.345-6A>G
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.65-6A>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

14-67147832-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147832
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147832
    reference: chr 14
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.72T>C
  hgvsp: ENST00000305960.9:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.72T>C
  hgvsp: ENST00000557654.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.72T>C
  hgvsp: ENST00000478722.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.72T>C
  hgvsp: ENST00000543237.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.72T>C
  hgvsp: ENST00000556633.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.72T>C
  hgvsp: ENST00000459628.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*93T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.352T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.72T>C
  hgvsp: ENST00000555668.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.72T>C
  hgvsp: ENST00000315266.5:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp24Asp
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

14-67147835-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147835
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147835
    reference: chr 14
allele count: 2
allele frequency: 1.663589026966778e-5
allele num: 120222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.75T>C
  hgvsp: ENST00000556633.1:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.355T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.75T>C
  hgvsp: ENST00000543237.1:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.75T>C
  hgvsp: ENST00000459628.1:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.75T>C
  hgvsp: ENST00000478722.1:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*96T>C
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.75T>C
  hgvsp: ENST00000557654.1:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.75T>C
  hgvsp: ENST00000555668.1:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.75T>C
  hgvsp: ENST00000315266.5:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.75T>C
  hgvsp: ENST00000305960.9:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser25Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

14-67147843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147843
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147843
    reference: chr 14
allele count: 1
allele frequency: 8.310203267571925e-6
allele num: 120334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.83G>A
  hgvsp: ENSP00000451935.1:p.Arg28Lys
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.83G>A
  hgvsp: ENSP00000303019.9:p.Arg28Lys
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.83G>A
  hgvsp: ENSP00000312771.5:p.Arg28Lys
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.83G>A
  hgvsp: ENSP00000452220.1:p.Arg28Lys
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.363G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.83G>A
  hgvsp: ENSP00000417901.1:p.Arg28Lys
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.83G>A
  hgvsp: ENSP00000451790.1:p.Arg28Lys
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.83G>A
  hgvsp: ENSP00000438404.1:p.Arg28Lys
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*104G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.83G>A
  hgvsp: ENSP00000451056.1:p.Arg28Lys
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg28Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

14-67147846-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147846
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147846
    reference: chr 14
allele count: 11
allele frequency: 9.139097057210747e-5
allele num: 120362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*107A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.86A>G
  hgvsp: ENSP00000451790.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.86A>G
  hgvsp: ENSP00000451056.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.86A>G
  hgvsp: ENSP00000312771.5:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.86A>G
  hgvsp: ENSP00000451935.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.366A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.86A>G
  hgvsp: ENSP00000452220.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.86A>G
  hgvsp: ENSP00000417901.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.86A>G
  hgvsp: ENSP00000438404.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.86A>G
  hgvsp: ENSP00000303019.9:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20479
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn29Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

14-67147851-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147851
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147851
    reference: chr 14
allele count: 2
allele frequency: 1.66159879035608e-5
allele num: 120366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.91G>A
  hgvsp: ENSP00000438404.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.91G>A
  hgvsp: ENSP00000451790.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.91G>A
  hgvsp: ENSP00000451056.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.91G>A
  hgvsp: ENSP00000417901.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*112G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.371G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.91G>A
  hgvsp: ENSP00000312771.5:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.91G>A
  hgvsp: ENSP00000452220.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.91G>A
  hgvsp: ENSP00000303019.9:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.91G>A
  hgvsp: ENSP00000451935.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala31Thr
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

14-67147860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147860
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147860
    reference: chr 14
allele count: 3
allele frequency: 2.491777135453005e-5
allele num: 120396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.100C>T
  hgvsp: ENSP00000451790.1:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*121C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.100C>T
  hgvsp: ENSP00000451056.1:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.100C>T
  hgvsp: ENSP00000417901.1:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.100C>T
  hgvsp: ENSP00000303019.9:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.100C>T
  hgvsp: ENSP00000452220.1:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.100C>T
  hgvsp: ENSP00000451935.1:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.100C>T
  hgvsp: ENSP00000438404.1:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.380C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.100C>T
  hgvsp: ENSP00000312771.5:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg34Cys
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

14-67147861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147861
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147861
    reference: chr 14
allele count: 1
allele frequency: 8.305371914554334e-6
allele num: 120404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.101G>A
  hgvsp: ENSP00000417901.1:p.Arg34His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.101G>A
  hgvsp: ENSP00000303019.9:p.Arg34His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.101G>A
  hgvsp: ENSP00000452220.1:p.Arg34His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.101G>A
  hgvsp: ENSP00000438404.1:p.Arg34His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.381G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.101G>A
  hgvsp: ENSP00000451935.1:p.Arg34His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.101G>A
  hgvsp: ENSP00000451056.1:p.Arg34His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.101G>A
  hgvsp: ENSP00000312771.5:p.Arg34His
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*122G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.101G>A
  hgvsp: ENSP00000451790.1:p.Arg34His
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20555
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg34His
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

14-67147861-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147861
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147861
    reference: chr 14
allele count: 1
allele frequency: 8.305371914554334e-6
allele num: 120404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.101G>T
  hgvsp: ENSP00000312771.5:p.Arg34Leu
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.101G>T
  hgvsp: ENSP00000303019.9:p.Arg34Leu
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.101G>T
  hgvsp: ENSP00000451935.1:p.Arg34Leu
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.101G>T
  hgvsp: ENSP00000452220.1:p.Arg34Leu
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.101G>T
  hgvsp: ENSP00000451056.1:p.Arg34Leu
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.101G>T
  hgvsp: ENSP00000417901.1:p.Arg34Leu
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.381G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.101G>T
  hgvsp: ENSP00000451790.1:p.Arg34Leu
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*122G>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.101G>T
  hgvsp: ENSP00000438404.1:p.Arg34Leu
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg34Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

14-67147872-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147872
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147872
    reference: chr 14
allele count: 1
allele frequency: 8.310341388824253e-6
allele num: 120332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.112A>G
  hgvsp: ENSP00000451790.1:p.Asn38Asp
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.112A>G
  hgvsp: ENSP00000303019.9:p.Asn38Asp
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.112A>G
  hgvsp: ENSP00000417901.1:p.Asn38Asp
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.112A>G
  hgvsp: ENSP00000438404.1:p.Asn38Asp
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.112A>G
  hgvsp: ENSP00000451056.1:p.Asn38Asp
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.112A>G
  hgvsp: ENSP00000452220.1:p.Asn38Asp
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.112A>G
  hgvsp: ENSP00000312771.5:p.Asn38Asp
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*133A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.112A>G
  hgvsp: ENSP00000451935.1:p.Asn38Asp
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.392A>G
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn38Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-67147875-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147875
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147875
    reference: chr 14
allele count: 2
allele frequency: 1.66333998669328e-5
allele num: 120240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.115C>A
  hgvsp: ENSP00000452220.1:p.Leu39Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.115C>A
  hgvsp: ENSP00000451790.1:p.Leu39Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*136C>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.115C>A
  hgvsp: ENSP00000438404.1:p.Leu39Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.115C>A
  hgvsp: ENSP00000417901.1:p.Leu39Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.115C>A
  hgvsp: ENSP00000312771.5:p.Leu39Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.115C>A
  hgvsp: ENSP00000451935.1:p.Leu39Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.115C>A
  hgvsp: ENSP00000451056.1:p.Leu39Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.395C>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.115C>A
  hgvsp: ENSP00000303019.9:p.Leu39Ile
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5852
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu39Ile
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

14-67147875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147875
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147875
    reference: chr 14
allele count: 1
allele frequency: 8.3166999334664e-6
allele num: 120240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.115C>T
  hgvsp: ENSP00000451935.1:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*136C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.115C>T
  hgvsp: ENSP00000417901.1:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.115C>T
  hgvsp: ENSP00000452220.1:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.115C>T
  hgvsp: ENSP00000451790.1:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.115C>T
  hgvsp: ENSP00000303019.9:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.115C>T
  hgvsp: ENSP00000312771.5:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.115C>T
  hgvsp: ENSP00000438404.1:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.115C>T
  hgvsp: ENSP00000451056.1:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.395C>T
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu39Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

14-67147880-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147880
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147880
    reference: chr 14
allele count: 2
allele frequency: 1.66433659543306e-5
allele num: 120168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.120A>G
  hgvsp: ENST00000543237.1:c.120A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.120A>G
  hgvsp: ENST00000478722.1:c.120A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*141A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.120A>G
  hgvsp: ENST00000555668.1:c.120A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.120A>G
  hgvsp: ENST00000459628.1:c.120A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.120A>G
  hgvsp: ENST00000557654.1:c.120A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.120A>G
  hgvsp: ENST00000556633.1:c.120A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.120A>G
  hgvsp: ENST00000305960.9:c.120A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.400A>G
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.120A>G
  hgvsp: ENST00000315266.5:c.120A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys40Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-67147886-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147886
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147886
    reference: chr 14
allele count: 2
allele frequency: 1.667917604870319e-5
allele num: 119910
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.126C>T
  hgvsp: ENST00000478722.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*147C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000303019
  ensembl transcript: ENST00000305960
  gene symbol: GPHN
  hgvsc: ENST00000305960.9:c.126C>T
  hgvsp: ENST00000305960.9:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.126C>T
  hgvsp: ENST00000459628.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.126C>T
  hgvsp: ENST00000315266.5:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.126C>T
  hgvsp: ENST00000557654.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451056
  ensembl transcript: ENST00000556633
  gene symbol: GPHN
  hgvsc: ENST00000556633.1:c.126C>T
  hgvsp: ENST00000556633.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.406C>T
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.126C>T
  hgvsp: ENST00000555668.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.126C>T
  hgvsp: ENST00000543237.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20446
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5779
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu42Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-67147887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67147887
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 67147887
    reference: chr 14
allele count: 11
allele frequency: 9.172781854569714e-5
allele num: 119920
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000417901
  ensembl transcript: ENST00000478722
  gene symbol: GPHN
  hgvsc: ENST00000478722.1:c.127G>A
  hgvsp: ENSP00000417901.1:p.Val43Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000438404
  ensembl transcript: ENST00000543237
  gene symbol: GPHN
  hgvsc: ENST00000543237.1:c.127G>A
  hgvsp: ENSP00000438404.1:p.Val43Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000452220
  ensembl transcript: ENST00000459628
  gene symbol: GPHN
  hgvsc: ENST00000459628.1:c.127G>A
  hgvsp: ENSP00000452220.1:p.Val43Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451935
  ensembl transcript: ENST00000555668
  gene symbol: GPHN
  hgvsc: ENST00000555668.1:c.127G>A
  hgvsp: ENSP00000451935.1:p.Val43Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451725
  ensembl transcript: ENST00000553936
  gene symbol: GPHN
  hgvsc: ENST00000553936.1:c.*148G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171723
  ensembl transcript: ENST00000556020
  gene symbol: GPHN
  hgvsc: ENST00000556020.1:n.407G>A
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000451790
  ensembl transcript: ENST00000557654
  gene symbol: GPHN
  hgvsc: ENST00000557654.1:c.127G>A
  hgvsp: ENSP00000451790.1:p.Val43Ile
  variant of: http://identifiers.org/hgnc/15465
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171723
  ensembl protein: ENSP00000312771
  ensembl transcript: ENST00000315266
  gene symbol: GPHN
  hgvsc: ENST00000315266.5:c.127G>A
  hgvsp: ENSP00000312771.5:p.Val43Ile
  variant of: http://identifiers.org/hgnc/15465
canonical: true
consequence: missense
filter: PASS
hgvs: p.Val43Ile
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 2725
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2925
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65990
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.423948612289419e-4
allele num: 16502
num of homozygotes: 1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.723e-1

DP
type: SiteQuality
SIO_000300: 3.068754e6

MQRankSum
type: SiteQuality
SIO_000300: -1.69e-1

FS
type: SiteQuality
SIO_000300: 8.295999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.738e1

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40359
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2586
bin: 6.75e1
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: 10218
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.05913717886573e-5
allele num: 66016
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 3.071874e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

VQSLOD
type: SiteQuality
SIO_000300: 4.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

QD
type: SiteQuality
SIO_000300: 1.404e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66016
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
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: 2
allele frequency: 1.732501732501733e-4
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 60
allele frequency: 5.871990604815032e-3
allele num: 10218
num of homozygotes: 1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

VQSLOD
type: SiteQuality
SIO_000300: 4.71e0

QD
type: SiteQuality
SIO_000300: 1.404e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.071874e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

GenotypeQuality
all individuals: 40335
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2754
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66068
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.732501732501733e-4
allele num: 11544
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

QD
type: SiteQuality
SIO_000300: 1.146e1

FS
type: SiteQuality
SIO_000300: 1.0951e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.871e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.135e0

DP
type: SiteQuality
SIO_000300: 3.073482e6

GenotypeQuality
all individuals: 2931
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512950859356088e-5
allele num: 66096
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.476e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.415e0

MQRankSum
type: SiteQuality
SIO_000300: -1.249e0

FS
type: SiteQuality
SIO_000300: 3.739e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.105e0

DP
type: SiteQuality
SIO_000300: 3.074826e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.117e-1

GenotypeQuality
all individuals: 1581
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2693
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3249
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510026576467746e-5
allele num: 66224
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.391e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

FS
type: SiteQuality
SIO_000300: 3.225e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

DP
type: SiteQuality
SIO_000300: 3.079179e6

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

GenotypeQuality
all individuals: 2710
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2787
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1836
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3249
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40340
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.725e-1

DP
type: SiteQuality
SIO_000300: 3.08053e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.79e-1

QD
type: SiteQuality
SIO_000300: 1.212e1

FS
type: SiteQuality
SIO_000300: 8.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

GenotypeQuality
all individuals: 239
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40341
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4720
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1835
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.522703973949225e-5
allele num: 66332
num of homozygotes: 0

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

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2767
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.325e1

VQSLOD
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SIO_000300: 8.69e-1

DP
type: SiteQuality
SIO_000300: 3.086511e6

ReadPosRankSum
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SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.398e0

FS
type: SiteQuality
SIO_000300: 4.063e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2980
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.745e0

FS
type: SiteQuality
SIO_000300: 2.781e0

VQSLOD
type: SiteQuality
SIO_000300: -3.581e0

QD
type: SiteQuality
SIO_000300: 6.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.9e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

DP
type: SiteQuality
SIO_000300: 3.086579e6

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 165

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 143
allele frequency: 2.147727614069869e-3
allele num: 66582
num of homozygotes: 1

Latino
type: Population
allele count: 12
allele frequency: 1.037165082108902e-3
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.884060757546626e-4
allele num: 10402
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.0999e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

InbreedingCoeff
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SIO_000300: 1.32e-2

FS
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

QD
type: SiteQuality
SIO_000300: 1.311e1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 1680
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variant carriers: 1

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
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variant carriers: 18

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 4915
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2777
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1851
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variant carriers: 0

GenotypeQuality
all individuals: 3265
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.802180638572673e-4
allele num: 66586
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

FS
type: SiteQuality
SIO_000300: 1.107e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.32e-2

QD
type: SiteQuality
SIO_000300: 1.28e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 3.085541e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4917
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variant carriers: 0

GenotypeQuality
all individuals: 2986
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -1.789e0

FS
type: SiteQuality
SIO_000300: 3.051e0

MQRankSum
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SIO_000300: -1.487e0

MQ
type: SiteQuality
SIO_000300: 5.88e1

QD
type: SiteQuality
SIO_000300: 1.001e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

BaseQRankSum
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SIO_000300: 2.36e0

DP
type: SiteQuality
SIO_000300: 3.084305e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

DP
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SIO_000300: 3.084492e6

VQSLOD
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SIO_000300: -2.495e0

FS
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
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SIO_000300: 6.15e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2985
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -5.073e-1

FS
type: SiteQuality
SIO_000300: 5.94e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.881e1

MQRankSum
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SIO_000300: 1.14e0

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.75e-1

DP
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SIO_000300: 3.084478e6

BaseQRankSum
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SIO_000300: 1.31e0

ClippingRankSum
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SIO_000300: 2.78e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2778
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

East Asian
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allele count: 0
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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African
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allele frequency: 9.615384615384615e-5
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Latino
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ReadPosRankSum
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DP
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.726e0

QD
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SIO_000300: 1.405e1

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

European (Finnish)
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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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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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VQSLOD
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FS
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InbreedingCoeff
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DP
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ReadPosRankSum
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BaseQRankSum
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MQ
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MQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16512
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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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 frequency: 1.50105073551486e-5
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European (Finnish)
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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MQ
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DP
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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East Asian
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South Asian
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European (Non-Finnish)
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allele num: 66602
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Other
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16512
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African
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East Asian
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allele frequency: 2.311604253351826e-4
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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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QD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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Other
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VQSLOD
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MQ
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DP
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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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

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

Other
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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 num: 66586
num of homozygotes: 0

South Asian
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Latino
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allele frequency: 0.0e0
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African
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DP
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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FS
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VQSLOD
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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South Asian
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Other
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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
allele num: 11568
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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VQSLOD
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MQ
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FS
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ReadPosRankSum
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DP
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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allele num: 66586
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European (Finnish)
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Other
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South Asian
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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FS
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66576
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South Asian
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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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Latino
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allele num: 11568
num of homozygotes: 0

African
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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DP
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FS
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QD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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DP
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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QD
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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European (Finnish)
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East Asian
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Other
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African
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ReadPosRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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VQSLOD
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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Other
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MQRankSum
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DP
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FS
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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allele frequency: NaN
allele num: 0
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Latino
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allele frequency: NaN
allele num: 0
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African
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allele num: 0
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Other
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allele num: 0
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DP
type: SiteQuality
SIO_000300: 1.2142e4

VQSLOD
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ClippingRankSum
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -1.096e-1

MQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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ReadPosRankSum
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DP
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FS
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QD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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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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African
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allele frequency: 1.961639058413252e-3
allele num: 9176
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South Asian
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allele count: 3
allele frequency: 1.912533469335713e-4
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European (Non-Finnish)
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allele count: 17
allele frequency: 2.805836139169473e-4
allele num: 60588
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.280081925243216e-4
allele num: 7812
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VQSLOD
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -3.54e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.557632398753894e-4
allele num: 6420
num of homozygotes: 0

East Asian
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allele count: 24
allele frequency: 3.072196620583717e-3
allele num: 7812
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.375111564452378e-5
allele num: 15686
num of homozygotes: 0

African
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allele count: 3
allele frequency: 3.269398430688753e-4
allele num: 9176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.475737769855417e-4
allele num: 60588
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

BaseQRankSum
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SIO_000300: -3.54e-1

ReadPosRankSum
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.806662e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9182
num of homozygotes: 0

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

East Asian
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allele count: 7
allele frequency: 8.988186954288649e-4
allele num: 7788
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 15638
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

Other
type: Population
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -4.1e-3

ClippingRankSum
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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DP
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QD
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SIO_000300: 7.64e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 64814
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
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African
type: Population
allele count: 0
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East Asian
type: Population
allele count: 1
allele frequency: 1.198753296571566e-4
allele num: 8342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
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MQRankSum
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VQSLOD
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QD
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.0e-3

BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

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

African
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 2
allele frequency: 1.76242509693338e-4
allele num: 11348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.37952176578786e-4
allele num: 65240
num of homozygotes: 0

Other
type: Population
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DP
type: SiteQuality
SIO_000300: 1.865101e6

MQRankSum
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SIO_000300: 4.4e-2

BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
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QD
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SIO_000300: 1.153e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 181
allele frequency: 2.033707865168539e-1
allele num: 890
num of homozygotes: 21

East Asian
type: Population
allele count: 3991
allele frequency: 4.689776733254994e-1
allele num: 8510
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African
type: Population
allele count: 6763
allele frequency: 6.621304092422166e-1
allele num: 10214
num of homozygotes: 2292

South Asian
type: Population
allele count: 5136
allele frequency: 3.130561989516031e-1
allele num: 16406
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European (Non-Finnish)
type: Population
allele count: 9727
allele frequency: 1.4821869381038e-1
allele num: 65626
num of homozygotes: 784

Latino
type: Population
allele count: 5053
allele frequency: 4.415414190842363e-1
allele num: 11444
num of homozygotes: 1138

European (Finnish)
type: Population
allele count: 994
allele frequency: 1.51063829787234e-1
allele num: 6580
num of homozygotes: 79

QD
type: SiteQuality
SIO_000300: 1.938e1

DP
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VQSLOD
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.03960606705371e-5
allele num: 65798
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.090133982947625e-5
allele num: 16420
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8510
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BaseQRankSum
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SIO_000300: 4.46e0

InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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SIO_000300: 1.401e1

ClippingRankSum
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SIO_000300: -7.11e-1

FS
type: SiteQuality
SIO_000300: 4.747e0

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.955413e6

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514600751241973e-5
allele num: 66024
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.724e0

DP
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SIO_000300: 1.959891e6

InbreedingCoeff
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SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 7.621e0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e-1

BaseQRankSum
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SIO_000300: 2.61e0

ReadPosRankSum
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SIO_000300: 1.57e0

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.366e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66044
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.21580547112462e-4
allele num: 16450
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10224
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
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MQRankSum
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SIO_000300: 1.22e0

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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SIO_000300: 6.82e0

InbreedingCoeff
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SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.960518e6

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512493193780628e-5
allele num: 66116
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
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: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.545e0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

VQSLOD
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FS
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SIO_000300: 2.997e0

QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -3.47e-1

DP
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SIO_000300: 1.962229e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.058425063505504e-4
allele num: 66136
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.608242044861763e-4
allele num: 11502
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10238
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MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023980162690133e-5
allele num: 66138
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

FS
type: SiteQuality
SIO_000300: 4.319e0

InbreedingCoeff
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MQ
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DP
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 1.21580547112462e-4
allele num: 16450
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511167528032158e-5
allele num: 66174
num of homozygotes: 0

European (Finnish)
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allele count: 0
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East Asian
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ClippingRankSum
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FS
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ReadPosRankSum
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66178
num of homozygotes: 0

European (Finnish)
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Other
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East Asian
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ClippingRankSum
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FS
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VQSLOD
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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Latino
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South Asian
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Other
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European (Non-Finnish)
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QD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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VQSLOD
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InbreedingCoeff
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DP
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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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GenotypeQuality
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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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East Asian
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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ClippingRankSum
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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SIO_000300: 1.35e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66096
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East Asian
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66096
num of homozygotes: 0

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