17-42474985-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42474985
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42474985
    reference: chr 17
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4460C>T
  hgvsp: ENSP00000467556.1:p.Pro1487Leu
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4346C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5776C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4226C>T
  hgvsp: ENSP00000395016.1:p.Pro1409Leu
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12687
  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: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro1487Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

17-42474993-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42474993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42474993
    reference: chr 17
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4452A>T
  hgvsp: ENST00000591680.1:c.4452A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4218A>T
  hgvsp: ENST00000434000.1:c.4218A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5768A>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4338A>T
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu1484Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

17-42474996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42474996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42474996
    reference: chr 17
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4449A>G
  hgvsp: ENST00000591680.1:c.4449A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4215A>G
  hgvsp: ENST00000434000.1:c.4215A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4335A>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5765A>G
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4914
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro1483Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

17-42475021-G-GGGGGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475021
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475027
    reference: chr 17
allele count: 3
allele frequency: 2.494304671001214e-5
allele num: 120274
alternate allele: GGGGGGC
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4189_4190insGCCCCC
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5739_5740insGCCCCC
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4423_4424insGCCCCC
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: protein altering
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala1475delinsGlyProPro
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-42475040-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475040
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475040
    reference: chr 17
allele count: 3
allele frequency: 2.526400889293113e-5
allele num: 118746
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4405C>T
  hgvsp: ENSP00000467556.1:p.Pro1469Ser
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4171C>T
  hgvsp: ENSP00000395016.1:p.Pro1391Ser
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4291C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5721C>T
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12173
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45560
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro1469Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

17-42475041-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475041
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475041
    reference: chr 17
allele count: 2
allele frequency: 1.685459540543729e-5
allele num: 118662
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4404T>C
  hgvsp: ENST00000591680.1:c.4404T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4290T>C
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5720T>C
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4170T>C
  hgvsp: ENST00000434000.1:c.4170T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala1468Ala
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

17-42475047-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475047
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475047
    reference: chr 17
allele count: 1
allele frequency: 8.508031581813232e-6
allele num: 117536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5714A>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4284A>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4398A>G
  hgvsp: ENST00000591680.1:c.4398A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4164A>G
  hgvsp: ENST00000434000.1:c.4164A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35990
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3971
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1466Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

17-42475050-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475050
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475050
    reference: chr 17
allele count: 1
allele frequency: 8.504413790757403e-6
allele num: 117586
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4395C>A
  hgvsp: ENST00000591680.1:c.4395C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4161C>A
  hgvsp: ENST00000434000.1:c.4161C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4281C>A
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5711C>A
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35931
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr1465Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-42475059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475059
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475059
    reference: chr 17
allele count: 5
allele frequency: 4.315553253927153e-5
allele num: 115860
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4386C>T
  hgvsp: ENST00000591680.1:c.4386C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5702C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4272C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4152C>T
  hgvsp: ENST00000434000.1:c.4152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11218
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32512
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6840
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu1462Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-42475061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475061
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475061
    reference: chr 17
allele count: 1
allele frequency: 8.642146017699115e-6
allele num: 115712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4270C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5700C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4384C>T
  hgvsp: ENSP00000467556.1:p.Leu1462Phe
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4150C>T
  hgvsp: ENSP00000395016.1:p.Leu1384Phe
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31689
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36829
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu1462Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-42475072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475072
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475072
    reference: chr 17
allele count: 1
allele frequency: 8.798169980644026e-6
allele num: 113660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4259C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4139C>T
  hgvsp: ENSP00000395016.1:p.Pro1380Leu
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4373C>T
  hgvsp: ENSP00000467556.1:p.Pro1458Leu
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5689C>T
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro1458Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

17-42475073-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475073
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475073
    reference: chr 17
allele count: 2
allele frequency: 1.762207693798791e-5
allele num: 113494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4258C>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4372C>G
  hgvsp: ENSP00000467556.1:p.Pro1458Ala
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4138C>G
  hgvsp: ENSP00000395016.1:p.Pro1380Ala
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5688C>G
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27966
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro1458Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/17-42475075-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475075
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475075
    reference: chr 17
allele count: 1
allele frequency: 8.849087659062351e-6
allele num: 113006
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4370T>G
  hgvsp: ENSP00000467556.1:p.Val1457Gly
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4136T>G
  hgvsp: ENSP00000395016.1:p.Val1379Gly
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5686T>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4256T>G
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val1457Gly
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

17-42475086-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475086
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475086
    reference: chr 17
allele count: 1
allele frequency: 8.999604017423233e-6
allele num: 111116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4245C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5675C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4125C>T
  hgvsp: ENST00000434000.1:c.4125C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4359C>T
  hgvsp: ENST00000591680.1:c.4359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3884
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3992
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr1453Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-42475107-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475107
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475107
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 105734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5654C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4104C>T
  hgvsp: ENST00000434000.1:c.4104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4224C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4338C>T
  hgvsp: ENST00000591680.1:c.4338C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5991
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1446Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-42475113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475113
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475113
    reference: chr 17
allele count: 1
allele frequency: 9.513299592830777e-6
allele num: 105116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4218C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4098C>T
  hgvsp: ENST00000434000.1:c.4098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4332C>T
  hgvsp: ENST00000591680.1:c.4332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5648C>T
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6415
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15522
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6064
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1444Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

17-42475115-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475115
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475115
    reference: chr 17
allele count: 1
allele frequency: 9.657356974543207e-6
allele num: 103548
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4330G>A
  hgvsp: ENSP00000467556.1:p.Ala1444Thr
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4216G>A
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5646G>A
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4096G>A
  hgvsp: ENSP00000395016.1:p.Ala1366Thr
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16286
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12671
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5978
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15450
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala1444Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

17-42475116-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475116
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475116
    reference: chr 17
allele count: 27
allele frequency: 2.601406686578668e-4
allele num: 103790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5645C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4095C>T
  hgvsp: ENST00000434000.1:c.4095C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4215C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4329C>T
  hgvsp: ENST00000591680.1:c.4329C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16200
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6291
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12629
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14790
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6004
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 9.75e1
  variant carriers: 26
hgvs: p.Pro1443Pro
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

17-42475125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475125
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475125
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 102478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4086C>T
  hgvsp: ENST00000434000.1:c.4086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5636C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4320C>T
  hgvsp: ENST00000591680.1:c.4320C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4206C>T
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 16366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4536
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His1440His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

17-42475142-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475142
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475142
    reference: chr 17
allele count: 16
allele frequency: 1.59894469650031e-4
allele num: 100066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5619G>A
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4189G>A
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4069G>A
  hgvsp: ENSP00000395016.1:p.Ala1357Thr
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4303G>A
  hgvsp: ENSP00000467556.1:p.Ala1435Thr
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10332
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14856
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17508
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Ala1435Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

17-42475143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475143
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475143
    reference: chr 17
allele count: 5
allele frequency: 4.937491359390121e-5
allele num: 101266
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4302C>T
  hgvsp: ENST00000591680.1:c.4302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4068C>T
  hgvsp: ENST00000434000.1:c.4068C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5618C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4188C>T
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9724
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18177
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1434Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-42475146-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475146
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475146
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 101658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5615T>C
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4299T>C
  hgvsp: ENST00000591680.1:c.4299T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4065T>C
  hgvsp: ENST00000434000.1:c.4065T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4185T>C
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5003
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14002
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe1433Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-42475172-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475172
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475172
    reference: chr 17
allele count: 1
allele frequency: 9.455728280192141e-6
allele num: 105756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5589A>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4273A>G
  hgvsp: ENSP00000467556.1:p.Ile1425Val
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4039A>G
  hgvsp: ENSP00000395016.1:p.Ile1347Val
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4159A>G
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9697
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2907
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile1425Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-42475172-TTGAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475172
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475168
    reference: chr 17
allele count: 2
allele frequency: 1.891145656038428e-5
allele num: 105756
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4269_4272delCTCA
  hgvsp: ENSP00000467556.1:p.His1423GlnfsTer95
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5585_5588delCTCA
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4035_4038delCTCA
  hgvsp: ENSP00000395016.1:p.His1345GlnfsTer95
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4155_*4158delCTCA
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25995
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9944
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9697
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2907
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His1423GlnfsTer95
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: TTGAG
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum

17-42475176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475176
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475176
    reference: chr 17
allele count: 2
allele frequency: 1.880547615465623e-5
allele num: 106352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4155C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4269C>T
  hgvsp: ENST00000591680.1:c.4269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5585C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4035C>T
  hgvsp: ENST00000434000.1:c.4035C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26867
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 9.75e1
  variant carriers: 2
hgvs: p.His1423His
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

17-42475184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475184
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475184
    reference: chr 17
allele count: 1
allele frequency: 9.283671877901148e-6
allele num: 107716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4027C>T
  hgvsp: ENSP00000395016.1:p.Leu1343Phe
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5577C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4261C>T
  hgvsp: ENSP00000467556.1:p.Leu1421Phe
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4147C>T
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1421Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-42475196-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475196
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475196
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 109270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4015T>C
  hgvsp: ENSP00000395016.1:p.Ser1339Pro
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4135T>C
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4249T>C
  hgvsp: ENSP00000467556.1:p.Ser1417Pro
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5565T>C
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5958
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser1417Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-42475211-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475211
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475211
    reference: chr 17
allele count: 1
allele frequency: 8.958165367732689e-6
allele num: 111630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.4000C>A
  hgvsp: ENSP00000395016.1:p.His1334Asn
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4120C>A
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4234C>A
  hgvsp: ENSP00000467556.1:p.His1412Asn
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5550C>A
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13654
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6425
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33936
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His1412Asn
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

17-42475218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475218
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475218
    reference: chr 17
allele count: 1
allele frequency: 8.851594172110397e-6
allele num: 112974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3993C>T
  hgvsp: ENST00000434000.1:c.3993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4113C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4227C>T
  hgvsp: ENST00000591680.1:c.4227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5543C>T
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro1409Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

17-42475220-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475220
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475220
    reference: chr 17
allele count: 3
allele frequency: 2.646389442670383e-5
allele num: 113362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5541C>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4111C>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4225C>G
  hgvsp: ENSP00000467556.1:p.Pro1409Ala
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3991C>G
  hgvsp: ENSP00000395016.1:p.Pro1331Ala
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro1409Ala
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/17-42475232-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475232
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475232
    reference: chr 17
allele count: 1
allele frequency: 8.640801866413203e-6
allele num: 115730
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4213G>T
  hgvsp: ENSP00000467556.1:p.Val1405Leu
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4099G>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3979G>T
  hgvsp: ENSP00000395016.1:p.Val1327Leu
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5529G>T
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1405Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ

17-42475245-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475245
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475245
    reference: chr 17
allele count: 1
allele frequency: 8.461095881138525e-6
allele num: 118188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4086A>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5516A>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3966A>G
  hgvsp: ENST00000434000.1:c.3966A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4200A>G
  hgvsp: ENST00000591680.1:c.4200A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln1400Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

17-42475257-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475257
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475257
    reference: chr 17
allele count: 21
allele frequency: 1.755999665523873e-4
allele num: 119590
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4188C>G
  hgvsp: ENSP00000467556.1:p.His1396Gln
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5504C>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4074C>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3954C>G
  hgvsp: ENSP00000395016.1:p.His1318Gln
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17217
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31044
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His1396Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

17-42475259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475259
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475259
    reference: chr 17
allele count: 1
allele frequency: 8.351846593281774e-6
allele num: 119734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4072C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4186C>T
  hgvsp: ENSP00000467556.1:p.His1396Tyr
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5502C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3952C>T
  hgvsp: ENSP00000395016.1:p.His1318Tyr
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His1396Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

17-42475263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475263
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475263
    reference: chr 17
allele count: 16
allele frequency: 1.334044823906083e-4
allele num: 119936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3948C>T
  hgvsp: ENST00000434000.1:c.3948C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4182C>T
  hgvsp: ENST00000591680.1:c.4182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5498C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4068C>T
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30600
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17656
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His1394His
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-42475271-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475271
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475271
    reference: chr 17
allele count: 105
allele frequency: 8.734568928226799e-4
allele num: 120212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5490G>A
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3940G>A
  hgvsp: ENSP00000395016.1:p.Gly1314Ser
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4060G>A
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4174G>A
  hgvsp: ENSP00000467556.1:p.Gly1392Ser
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18037
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29808
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 39639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly1392Ser
num of homozygotes: 1
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

17-42475272-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475272
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475272
    reference: chr 17
allele count: 1
allele frequency: 8.311446524153063e-6
allele num: 120316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4059C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3939C>T
  hgvsp: ENST00000434000.1:c.3939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4173C>T
  hgvsp: ENST00000591680.1:c.4173C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5489C>T
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile1391Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-42475275-GGCGGCAGCAGCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475275
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475263
    reference: chr 17
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsp: ENSP00000467556.1:p.Ala1387_Ala1390del
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsp: ENSP00000395016.1:p.Ala1309_Ala1312del
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29656
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1387_Ala1390del
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: GGCGGCAGCAGCT
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

17-42475276-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475276
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475276
    reference: chr 17
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4055C>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4169C>G
  hgvsp: ENSP00000467556.1:p.Ala1390Gly
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3935C>G
  hgvsp: ENSP00000395016.1:p.Ala1312Gly
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5485C>G
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1390Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

17-42475277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475277
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475277
    reference: chr 17
allele count: 27
allele frequency: 2.24271118863693e-4
allele num: 120390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4168G>A
  hgvsp: ENSP00000467556.1:p.Ala1390Thr
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5484G>A
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4054G>A
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3934G>A
  hgvsp: ENSP00000395016.1:p.Ala1312Thr
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18225
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7479
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29464
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39565
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1390Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

17-42475278-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475278
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475278
    reference: chr 17
allele count: 2
allele frequency: 1.66021948101539e-5
allele num: 120466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4053C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3933C>T
  hgvsp: ENST00000434000.1:c.3933C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5483C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4167C>T
  hgvsp: ENST00000591680.1:c.4167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1389Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

17-42475280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475280
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475280
    reference: chr 17
allele count: 3
allele frequency: 2.48970920196521e-5
allele num: 120496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3931G>A
  hgvsp: ENSP00000395016.1:p.Ala1311Thr
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4165G>A
  hgvsp: ENSP00000467556.1:p.Ala1389Thr
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4051G>A
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5481G>A
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18467
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala1389Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/17-42475289-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475289
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475289
    reference: chr 17
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4042G>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3922G>T
  hgvsp: ENSP00000395016.1:p.Ala1308Ser
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4156G>T
  hgvsp: ENSP00000467556.1:p.Ala1386Ser
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5472G>T
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1386Ser
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: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

17-42475289-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475289
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475289
    reference: chr 17
allele count: 2
allele frequency: 1.65809981760902e-5
allele num: 120620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3922G>A
  hgvsp: ENSP00000395016.1:p.Ala1308Thr
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4156G>A
  hgvsp: ENSP00000467556.1:p.Ala1386Thr
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4042G>A
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5472G>A
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1386Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-42475290-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475290
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475290
    reference: chr 17
allele count: 7
allele frequency: 5.801617822569951e-5
allele num: 120656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3921C>T
  hgvsp: ENST00000434000.1:c.3921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4155C>T
  hgvsp: ENST00000591680.1:c.4155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4041C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5471C>T
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18832
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1385Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

17-42475299-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475299
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475299
    reference: chr 17
allele count: 1
allele frequency: 8.278693953241936e-6
allele num: 120792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5462T>A
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3912T>A
  hgvsp: ENSP00000395016.1:p.His1304Gln
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4146T>A
  hgvsp: ENSP00000467556.1:p.His1382Gln
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4032T>A
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His1382Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP

17-42475299-ATGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475299
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475296
    reference: chr 17
allele count: 1
allele frequency: 8.278693953241936e-6
allele num: 120792
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4143_4145delACA
  hgvsp: ENSP00000467556.1:p.Gln1381del
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5459_5461delACA
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3909_3911delACA
  hgvsp: ENSP00000395016.1:p.Gln1303del
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4029_*4031delACA
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln1381del
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: ATGT
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

17-42475322-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475322
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475322
    reference: chr 17
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4123G>A
  hgvsp: ENSP00000467556.1:p.Val1375Ile
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4009G>A
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5439G>A
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3889G>A
  hgvsp: ENSP00000395016.1:p.Val1297Ile
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val1375Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD

17-42475323-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475323
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475323
    reference: chr 17
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5438T>C
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4008T>C
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3888T>C
  hgvsp: ENST00000434000.1:c.3888T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4122T>C
  hgvsp: ENST00000591680.1:c.4122T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr1374Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-42475328-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475328
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475328
    reference: chr 17
allele count: 16
allele frequency: 1.323013825494476e-4
allele num: 120936
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4117A>G
  hgvsp: ENSP00000467556.1:p.Thr1373Ala
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3883A>G
  hgvsp: ENSP00000395016.1:p.Thr1295Ala
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5433A>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*4003A>G
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29082
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8901
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr1373Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

17-42475341-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475341
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475341
    reference: chr 17
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3870T>C
  hgvsp: ENST00000434000.1:c.3870T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4104T>C
  hgvsp: ENST00000591680.1:c.4104T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3990T>C
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5420T>C
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40499
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser1368Ser
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: A
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

17-42475342-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475342
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475342
    reference: chr 17
allele count: 1
allele frequency: 8.268426187759421e-6
allele num: 120942
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5419C>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3869C>G
  hgvsp: ENSP00000395016.1:p.Ser1290Cys
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4103C>G
  hgvsp: ENSP00000467556.1:p.Ser1368Cys
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3989C>G
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser1368Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

17-42475353-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475353
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475353
    reference: chr 17
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3858A>G
  hgvsp: ENST00000434000.1:c.3858A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3978A>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5408A>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4092A>G
  hgvsp: ENST00000591680.1:c.4092A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19528
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro1364Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

17-42475361-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475361
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475361
    reference: chr 17
allele count: 3
allele frequency: 2.481102271035612e-5
allele num: 120914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3850C>G
  hgvsp: ENSP00000395016.1:p.Gln1284Glu
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3970C>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5400C>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4084C>G
  hgvsp: ENSP00000467556.1:p.Gln1362Glu
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28257
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Gln1362Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-42475375-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475375
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475375
    reference: chr 17
allele count: 2
allele frequency: 1.654259718775848e-5
allele num: 120900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3836A>C
  hgvsp: ENSP00000395016.1:p.Gln1279Pro
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4070A>C
  hgvsp: ENSP00000467556.1:p.Gln1357Pro
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3956A>C
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5386A>C
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8756
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln1357Pro
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

17-42475379-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475379
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475379
    reference: chr 17
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5382C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3952C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4066C>T
  hgvsp: ENST00000591680.1:c.4066C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3832C>T
  hgvsp: ENST00000434000.1:c.3832C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8076
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 38926
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu1356Leu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-42475381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475381
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475381
    reference: chr 17
allele count: 4
allele frequency: 3.309614429918914e-5
allele num: 120860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5380C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3830C>T
  hgvsp: ENSP00000395016.1:p.Ala1277Val
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4064C>T
  hgvsp: ENSP00000467556.1:p.Ala1355Val
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3950C>T
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19207
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8682
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1355Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-42475383-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475383
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475383
    reference: chr 17
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5378A>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3948A>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3828A>G
  hgvsp: ENST00000434000.1:c.3828A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4062A>G
  hgvsp: ENST00000591680.1:c.4062A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27555
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8706
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 38784
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genotype quality: GenotypeQuality
  all individuals: 501
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro1354Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

17-42475398-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475398
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475398
    reference: chr 17
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3813G>C
  hgvsp: ENST00000434000.1:c.3813G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5363G>C
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4047G>C
  hgvsp: ENST00000591680.1:c.4047G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3933G>C
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu1349Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

17-42475401-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475401
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475401
    reference: chr 17
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3930C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5360C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3810C>T
  hgvsp: ENST00000434000.1:c.3810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4044C>T
  hgvsp: ENST00000591680.1:c.4044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 36976
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3501
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genotype quality: GenotypeQuality
  all individuals: 8780
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala1348Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-42475427-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475427
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475427
    reference: chr 17
allele count: 1
allele frequency: 8.269656974628692e-6
allele num: 120924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3784G>T
  hgvsp: ENSP00000395016.1:p.Val1262Leu
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4018G>T
  hgvsp: ENSP00000467556.1:p.Val1340Leu
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5334G>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3904G>T
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val1340Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-42475437-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475437
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475437
    reference: chr 17
allele count: 2
allele frequency: 1.651991475723985e-5
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3894G>C
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4008G>C
  hgvsp: ENST00000591680.1:c.4008G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5324G>C
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3774G>C
  hgvsp: ENST00000434000.1:c.3774G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3905
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu1336Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

17-42475439-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475439
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475439
    reference: chr 17
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3892C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5322C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4006C>T
  hgvsp: ENST00000591680.1:c.4006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3772C>T
  hgvsp: ENST00000434000.1:c.3772C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1336Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-42475443-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475443
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475443
    reference: chr 17
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3768G>C
  hgvsp: ENSP00000395016.1:p.Gln1256His
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5318G>C
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.4002G>C
  hgvsp: ENSP00000467556.1:p.Gln1334His
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3888G>C
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3592
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37904
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln1334His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

17-42475447-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475447
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475447
    reference: chr 17
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5314A>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3884A>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3764A>G
  hgvsp: ENSP00000395016.1:p.Gln1255Arg
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.3998A>G
  hgvsp: ENSP00000467556.1:p.Gln1333Arg
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9390
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln1333Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-42475458-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475458
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475458
    reference: chr 17
allele count: 5
allele frequency: 4.124323610927808e-5
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3753A>G
  hgvsp: ENST00000434000.1:c.3753A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5303A>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3873A>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.3987A>G
  hgvsp: ENST00000591680.1:c.3987A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln1329Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-42475464-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475464
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475464
    reference: chr 17
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3747T>C
  hgvsp: ENST00000434000.1:c.3747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.3981T>C
  hgvsp: ENST00000591680.1:c.3981T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5297T>C
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3867T>C
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala1327Ala
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

17-42475476-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475476
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475476
    reference: chr 17
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3855C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3735C>T
  hgvsp: ENST00000434000.1:c.3735C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.3969C>T
  hgvsp: ENST00000591680.1:c.3969C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5285C>T
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1323Leu
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

17-42475488-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475488
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475488
    reference: chr 17
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.3957G>A
  hgvsp: ENST00000591680.1:c.3957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3723G>A
  hgvsp: ENST00000434000.1:c.3723G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3843G>A
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5273G>A
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38230
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys1319Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ

17-42475492-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475492
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475492
    reference: chr 17
allele count: 2
allele frequency: 1.648478454386601e-5
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3719A>G
  hgvsp: ENSP00000395016.1:p.Glu1240Gly
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.3953A>G
  hgvsp: ENSP00000467556.1:p.Glu1318Gly
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3839A>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5269A>G
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu1318Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-42475531-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475531
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475530
    reference: chr 17
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5229delC
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3679delC
  hgvsp: ENSP00000395016.1:p.Leu1227TrpfsTer36
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.3913delC
  hgvsp: ENSP00000467556.1:p.Leu1305TrpfsTer36
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3799delC
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25957
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4044
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1305TrpfsTer36
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: AG
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-42475533-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475533
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475533
    reference: chr 17
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3678C>T
  hgvsp: ENST00000434000.1:c.3678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.3912C>T
  hgvsp: ENST00000591680.1:c.3912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3798C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5228C>T
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37562
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro1304Pro
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

17-42475537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475537
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475537
    reference: chr 17
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3794C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.3908C>T
  hgvsp: ENSP00000467556.1:p.Ala1303Val
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5224C>T
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3674C>T
  hgvsp: ENSP00000395016.1:p.Ala1225Val
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4044
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala1303Val
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ

17-42475550-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475550
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475550
    reference: chr 17
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.3895G>A
  hgvsp: ENSP00000467556.1:p.Asp1299Asn
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3661G>A
  hgvsp: ENSP00000395016.1:p.Asp1221Asn
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3781G>A
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5211G>A
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp1299Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-42475554-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42475554
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42475554
    reference: chr 17
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000467556
  ensembl transcript: ENST00000591680
  gene symbol: GPATCH8
  hgvsc: ENST00000591680.1:c.3891T>G
  hgvsp: ENST00000591680.1:c.3891T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186566
  ensembl transcript: ENST00000335500
  gene symbol: GPATCH8
  hgvsc: ENST00000335500.4:n.5207T>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000468719
  ensembl transcript: ENST00000587228
  gene symbol: GPATCH8
  hgvsc: ENST00000587228.1:c.*3777T>G
  variant of: http://identifiers.org/hgnc/29066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186566
  ensembl protein: ENSP00000395016
  ensembl transcript: ENST00000434000
  gene symbol: GPATCH8
  hgvsc: ENST00000434000.1:c.3657T>G
  hgvsp: ENST00000434000.1:c.3657T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1297Ala
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52527
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4962
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.526717557251908e-4
allele num: 6550
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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.4058e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.349e0

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

QD
type: SiteQuality
SIO_000300: 1.062e1

VQSLOD
type: SiteQuality
SIO_000300: -2.292e0

MQ
type: SiteQuality
SIO_000300: 5.865e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.577e0

FS
type: SiteQuality
SIO_000300: 5.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.113964294448521e-5
allele num: 16356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
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: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.404349e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

FS
type: SiteQuality
SIO_000300: 3.393e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

QD
type: SiteQuality
SIO_000300: 1.137e1

VQSLOD
type: SiteQuality
SIO_000300: 8.83e-1

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.468e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.678e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 1.403445e6

MQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.09e-1

GenotypeQuality
all individuals: 47
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.933488012374323e-4
allele num: 10344
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507840772014475e-5
allele num: 66320
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.479e0

FS
type: SiteQuality
SIO_000300: 2.59756e2

MQ
type: SiteQuality
SIO_000300: 5.285e1

QD
type: SiteQuality
SIO_000300: 3.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.595e0

VQSLOD
type: SiteQuality
SIO_000300: -6.851000000000001e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

DP
type: SiteQuality
SIO_000300: 1.396049e6

GenotypeQuality
all individuals: 4390
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.744689144416293e-5
allele num: 10262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.044325377496347e-5
allele num: 65696
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15604
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.08e1

DP
type: SiteQuality
SIO_000300: 1.389363e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.683e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

FS
type: SiteQuality
SIO_000300: 9.414e0

VQSLOD
type: SiteQuality
SIO_000300: 3.02e-1

GenotypeQuality
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
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African
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allele count: 1
allele frequency: 9.75609756097561e-5
allele num: 10250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.522904483430799e-5
allele num: 65664
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15600
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East Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 2.38e0

FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -4.486e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
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Latino
type: Population
allele count: 1
allele frequency: 8.941344778254649e-5
allele num: 11184
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
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East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8542
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15244
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

DP
type: SiteQuality
SIO_000300: 1.359512e6

VQSLOD
type: SiteQuality
SIO_000300: 3.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

FS
type: SiteQuality
SIO_000300: 1.927e0

QD
type: SiteQuality
SIO_000300: 1.041e1

MQ
type: SiteQuality
SIO_000300: 5.884e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
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allele count: 1
allele frequency: 6.556517178075007e-5
allele num: 15252
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10188
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65200
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
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QD
type: SiteQuality
SIO_000300: 1.323e1

MQ
type: SiteQuality
SIO_000300: 5.805e1

DP
type: SiteQuality
SIO_000300: 1.359008e6

FS
type: SiteQuality
SIO_000300: 2.246e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.748e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

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: 3
allele frequency: 2.739225712198685e-4
allele num: 10952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.101833183411396e-5
allele num: 64478
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.218e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.329901e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

MQ
type: SiteQuality
SIO_000300: 5.92e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.908e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.39e-1

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: 64396
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.7842605156038e-5
allele num: 14740
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
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DP
type: SiteQuality
SIO_000300: 1.31999e6

MQRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.398e0

MQ
type: SiteQuality
SIO_000300: 5.662e1

VQSLOD
type: SiteQuality
SIO_000300: -1.828e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

QD
type: SiteQuality
SIO_000300: 3.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.264e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.93e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572871118940514e-5
allele num: 63578
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6140
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

VQSLOD
type: SiteQuality
SIO_000300: -1.314e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.270515e6

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

QD
type: SiteQuality
SIO_000300: 1.558e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6140
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.575398575839688e-5
allele num: 63476
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
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South Asian
type: Population
allele count: 1
allele frequency: 7.120478496154942e-5
allele num: 14044
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.275e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

QD
type: SiteQuality
SIO_000300: 9.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.270372e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6120
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63338
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.201923076923077e-4
allele num: 8320
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -1.507e0

VQSLOD
type: SiteQuality
SIO_000300: -2.032e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.11e-1

FS
type: SiteQuality
SIO_000300: 1.693e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.258572e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.867e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.705e0

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
allele num: 10504
num of homozygotes: 0

South Asian
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: 1
allele frequency: 1.600512163892445e-5
allele num: 62480
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

FS
type: SiteQuality
SIO_000300: 8.544e0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.1e-2

DP
type: SiteQuality
SIO_000300: 1.222026e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.559e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.078e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60118
num of homozygotes: 0

Latino
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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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
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MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.111827e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
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Other
type: Population
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allele frequency: 0.0e0
allele num: 774
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5752
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African
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allele count: 1
allele frequency: 1.051524710830704e-4
allele num: 9510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59924
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.09765e6

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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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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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.690217023865864e-5
allele num: 59164
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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ReadPosRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 15847
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 21
allele frequency: 2.225519287833828e-3
allele num: 9436
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.040816326530612e-4
allele num: 9800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.052546483427647e-5
allele num: 59376
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.196247930844215e-5
allele num: 10874
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.374e1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

FS
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.090625e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 216
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.344e1

VQSLOD
type: SiteQuality
SIO_000300: -1.059e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.060781e6

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 1399
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5518
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1861
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3550
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5420
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 1.057305984351871e-3
allele num: 9458
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.266550522648084e-4
allele num: 9184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.727473742399115e-5
allele num: 57888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.084201750729471e-4
allele num: 9596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

QD
type: SiteQuality
SIO_000300: 1.123e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

FS
type: SiteQuality
SIO_000300: 1.779e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

DP
type: SiteQuality
SIO_000300: 1.079004e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

GenotypeQuality
all individuals: 592
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.540584859251162e-5
allele num: 58544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.693e0

FS
type: SiteQuality
SIO_000300: 3.334e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.086323e6

QD
type: SiteQuality
SIO_000300: 1.009e1

GenotypeQuality
all individuals: 21705
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4864
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2798
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 8.289999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.911e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 1.102846e6

FS
type: SiteQuality
SIO_000300: 1.3222e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

GenotypeQuality
all individuals: 1456
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.640150893882237e-5
allele num: 60970
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.234477e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

QD
type: SiteQuality
SIO_000300: 8.140000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

FS
type: SiteQuality
SIO_000300: 5.038e0

MQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.99e-1

GenotypeQuality
all individuals: 1634
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29147
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 9.75e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5746
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.280301787764474e-5
allele num: 60970
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.895e1

DP
type: SiteQuality
SIO_000300: 1.234477e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
SIO_000300: 8.140000000000001e0

FS
type: SiteQuality
SIO_000300: 5.038e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.99e-1

GenotypeQuality
all individuals: 562
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29784
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5067
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variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.904036557501904e-4
allele num: 10504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.595e0

QD
type: SiteQuality
SIO_000300: 9.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.376e0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

DP
type: SiteQuality
SIO_000300: 1.251961e6

GenotypeQuality
all individuals: 1632
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
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variant carriers: 1

GenotypeQuality
all individuals: 31397
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026272577996716e-4
allele num: 9744
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5864
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.752e1

MQ
type: SiteQuality
SIO_000300: 5.892e1

FS
type: SiteQuality
SIO_000300: 1.192e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 1.288242e6

VQSLOD
type: SiteQuality
SIO_000300: -3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.791e0

GenotypeQuality
all individuals: 863
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32609
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variant carriers: 0

GenotypeQuality
all individuals: 243
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variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10746
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

VQSLOD
type: SiteQuality
SIO_000300: 5.82e-1

DP
type: SiteQuality
SIO_000300: 1.329224e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.522e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.028e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573663173134422e-5
allele num: 63546
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11714
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 1.380178e6

QD
type: SiteQuality
SIO_000300: 7.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.445e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: -2.919e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.077e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2388
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GenotypeQuality
all individuals: 576
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variant carriers: 1

GenotypeQuality
all individuals: 35675
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12378
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.964129135113592e-5
allele num: 10036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63994
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.407674e6

MQRankSum
type: SiteQuality
SIO_000300: -7.11e-1

FS
type: SiteQuality
SIO_000300: 2.019e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.591e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.51e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
all individuals: 656
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
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variant carriers: 0

GenotypeQuality
all individuals: 6796
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.985668789808917e-4
allele num: 10048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64100
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

QD
type: SiteQuality
SIO_000300: 1.54e1

MQ
type: SiteQuality
SIO_000300: 5.904e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.494e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 4.494e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

DP
type: SiteQuality
SIO_000300: 1.414273e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64846
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.885729518393461e-5
allele num: 11254
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.455306e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.713e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQRankSum
type: SiteQuality
SIO_000300: -1.015e0

QD
type: SiteQuality
SIO_000300: 2.06e1

FS
type: SiteQuality
SIO_000300: 4.894e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-2

FS
type: SiteQuality
SIO_000300: 2.473e0

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.86e-1

QD
type: SiteQuality
SIO_000300: 1.388e1

DP
type: SiteQuality
SIO_000300: 1.496204e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.17931326833404e-4
allele num: 66052
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

DP
type: SiteQuality
SIO_000300: 1.521804e6

QD
type: SiteQuality
SIO_000300: 1.424e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16124
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

FS
type: SiteQuality
SIO_000300: 2.476e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.914e1

QD
type: SiteQuality
SIO_000300: 1.321e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.857e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.769e0

VQSLOD
type: SiteQuality
SIO_000300: -9.85e-2

DP
type: SiteQuality
SIO_000300: 1.527063e6

GenotypeQuality
all individuals: 39939
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.41779497098646e-4
allele num: 66176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.224e0

FS
type: SiteQuality
SIO_000300: 5.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

QD
type: SiteQuality
SIO_000300: 1.323e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

DP
type: SiteQuality
SIO_000300: 1.533368e6

GenotypeQuality
all individuals: 427
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3092
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 9.75e1
variant carriers: 103

GenotypeQuality
all individuals: 2602
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.910360884749709e-4
allele num: 10308
num of homozygotes: 0

South Asian
type: Population
allele count: 34
allele frequency: 2.080274106705825e-3
allele num: 16344
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 47
allele frequency: 7.092626686385175e-4
allele num: 66266
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.472222222222222e-4
allele num: 8640
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 17
allele frequency: 2.692429521697814e-3
allele num: 6314
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

QD
type: SiteQuality
SIO_000300: 1.4e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.547528e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66328
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.59e0

FS
type: SiteQuality
SIO_000300: 1.239e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.473e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 1.54891e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.22e0

QD
type: SiteQuality
SIO_000300: 1.097e1

MQ
type: SiteQuality
SIO_000300: 5.865e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507204437209863e-5
allele num: 66348
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.286e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

MQ
type: SiteQuality
SIO_000300: 5.414e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.94e-1

FS
type: SiteQuality
SIO_000300: 4.649e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.193e0

QD
type: SiteQuality
SIO_000300: 2.77e0

MQRankSum
type: SiteQuality
SIO_000300: -1.971e0

DP
type: SiteQuality
SIO_000300: 1.550858e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506614035616356e-5
allele num: 66374
num of homozygotes: 0

South Asian
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Other
type: Population
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East Asian
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allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.551404e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.99e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.694e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.03e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 432
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GenotypeQuality
all individuals: 2609
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.732099196646873e-5
allele num: 11452
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.906413485758574e-4
allele num: 10322
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European (Finnish)
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allele count: 1
allele frequency: 1.578282828282828e-4
allele num: 6336
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
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Other
type: Population
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allele frequency: 0.0e0
allele num: 892
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European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.110277049229749e-4
allele num: 66342
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.657198585883213e-4
allele num: 16406
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-1

FS
type: SiteQuality
SIO_000300: 1.101e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.95e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.553964e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50652324565368e-5
allele num: 66378
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16440
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6336
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Other
type: Population
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African
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.428e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.554147e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 39870
bin: 6.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.517936206740761e-5
allele num: 66402
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.77e-1

QD
type: SiteQuality
SIO_000300: 8.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.947e0

FS
type: SiteQuality
SIO_000300: 6.051e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.554754e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504709741490866e-5
allele num: 66458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.557646e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.446e1

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.301e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 710
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variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009419482981733e-5
allele num: 66458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.301e0

DP
type: SiteQuality
SIO_000300: 1.557646e6

QD
type: SiteQuality
SIO_000300: 1.446e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.935733643050716e-4
allele num: 10332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.574803149606299e-4
allele num: 6350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.512906913773392e-5
allele num: 66476
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

DP
type: SiteQuality
SIO_000300: 1.558063e6

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.103e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
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: 890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.218e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.561794e6

GenotypeQuality
all individuals: 383
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 250
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variant carriers: 0

GenotypeQuality
all individuals: 40417
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.933e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.561794e6

QD
type: SiteQuality
SIO_000300: 1.218e1

GenotypeQuality
all individuals: 175
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.562e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.569293e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 1.155e1

FS
type: SiteQuality
SIO_000300: 4.263e0

VQSLOD
type: SiteQuality
SIO_000300: 5.73e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.569335e6

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e-1

FS
type: SiteQuality
SIO_000300: 9.734e0

QD
type: SiteQuality
SIO_000300: 1.069e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.293e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.498e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 200
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
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: 10
allele frequency: 1.501005673801447e-4
allele num: 66622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.395552771688068e-4
allele num: 6386
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.911e1

DP
type: SiteQuality
SIO_000300: 1.570621e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.31e-1

QD
type: SiteQuality
SIO_000300: 1.29e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
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: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.571932e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-2

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.572188e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.675e0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
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: 66610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

DP
type: SiteQuality
SIO_000300: 1.570993e6

VQSLOD
type: SiteQuality
SIO_000300: 4.08e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.16e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3356
bin: 7.25e1
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GenotypeQuality
all individuals: 327
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.894635275955229e-4
allele num: 10364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

FS
type: SiteQuality
SIO_000300: 1.508e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 1.571135e6

QD
type: SiteQuality
SIO_000300: 1.094e1

GenotypeQuality
all individuals: 39444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 3.25e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
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: 2
allele frequency: 3.003003003003003e-5
allele num: 66600
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e0

DP
type: SiteQuality
SIO_000300: 1.570219e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 7.093e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.309e1

GenotypeQuality
all individuals: 499
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8718
bin: 6.75e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

FS
type: SiteQuality
SIO_000300: 5.853e0

QD
type: SiteQuality
SIO_000300: 1.618e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.569877e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.096e0

VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.87e-1

GenotypeQuality
all individuals: 421
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3391
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 3.860258637328701e-4
allele num: 10362
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.675e0

FS
type: SiteQuality
SIO_000300: 5.021e0

DP
type: SiteQuality
SIO_000300: 1.56994e6

MQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

QD
type: SiteQuality
SIO_000300: 9.98e0

GenotypeQuality
all individuals: 428
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3403
bin: 7.25e1
variant carriers: 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: 8648
num of homozygotes: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

DP
type: SiteQuality
SIO_000300: 1.570265e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.93e0

GenotypeQuality
all individuals: 2993
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
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variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.61e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.018e0

DP
type: SiteQuality
SIO_000300: 1.573956e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.109e0

MQRankSum
type: SiteQuality
SIO_000300: -1.443e0

QD
type: SiteQuality
SIO_000300: 1.288e1

GenotypeQuality
all individuals: 670
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

DP
type: SiteQuality
SIO_000300: 1.575058e6

QD
type: SiteQuality
SIO_000300: 1.071e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 293
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9152
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3342
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.88e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

DP
type: SiteQuality
SIO_000300: 1.599388e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.476e0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9367
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.334e1

DP
type: SiteQuality
SIO_000300: 1.610058e6

VQSLOD
type: SiteQuality
SIO_000300: 2.51e-1

FS
type: SiteQuality
SIO_000300: 3.973e0

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
all individuals: 207
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2012
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.38e0

VQSLOD
type: SiteQuality
SIO_000300: -7.3e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

DP
type: SiteQuality
SIO_000300: 1.612121e6

FS
type: SiteQuality
SIO_000300: 3.789e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.79e-1

QD
type: SiteQuality
SIO_000300: 1.447e1

GenotypeQuality
all individuals: 948
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 599
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9458
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
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: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.594e0

QD
type: SiteQuality
SIO_000300: 1.531e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.48e-1

MQ
type: SiteQuality
SIO_000300: 5.83e1

VQSLOD
type: SiteQuality
SIO_000300: -5.886e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.54e-1

DP
type: SiteQuality
SIO_000300: 1.615299e6

GenotypeQuality
all individuals: 968
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 125
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9513
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 1.402e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

DP
type: SiteQuality
SIO_000300: 1.618505e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 805
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731601731601732e-4
allele num: 11550
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

FS
type: SiteQuality
SIO_000300: 3.99e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

DP
type: SiteQuality
SIO_000300: 1.624366e6

QD
type: SiteQuality
SIO_000300: 1.391e1

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

GenotypeQuality
all individuals: 3711
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.345e0

MQ
type: SiteQuality
SIO_000300: 5.816e1

DP
type: SiteQuality
SIO_000300: 1.626588e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
SIO_000300: 1.474e1

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 2.621e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2189
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.528e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.736e1

VQSLOD
type: SiteQuality
SIO_000300: -1.604e0

DP
type: SiteQuality
SIO_000300: 1.629159e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-3

FS
type: SiteQuality
SIO_000300: 1.3741e1

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

GenotypeQuality
all individuals: 666
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9638
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.629756e6

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

FS
type: SiteQuality
SIO_000300: 1.753e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 1053
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4061
bin: 7.25e1
variant carriers: 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: 2
allele frequency: 2.99895036737142e-5
allele num: 66690
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.629442e6

FS
type: SiteQuality
SIO_000300: 5.775e0

QD
type: SiteQuality
SIO_000300: 1.174e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 827
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 2.25e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.094588005850804e-5
allele num: 16408
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.625122e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -1.346e0

FS
type: SiteQuality
SIO_000300: 4.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

GenotypeQuality
all individuals: 2191
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9548
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4047
bin: 7.25e1
variant carriers: 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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.618e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

DP
type: SiteQuality
SIO_000300: 1.624755e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQ
type: SiteQuality
SIO_000300: 5.922e1

QD
type: SiteQuality
SIO_000300: 1.318e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
all individuals: 1062
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 666
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9558
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.331e0

FS
type: SiteQuality
SIO_000300: 2.734e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e0

MQRankSum
type: SiteQuality
SIO_000300: -2.068e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 1.623959e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.36e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.812e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 9540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.616e0

QD
type: SiteQuality
SIO_000300: 1.216e1

FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.873e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.622436e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.965e0