3-48720378-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720378
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720378
    reference: chr 3
allele count: 1
allele frequency: 4.639079606606049e-5
allele num: 21556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.239G>A
  hgvsp: ENSP00000342621.4:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.239G>A
  hgvsp: ENSP00000294129.2:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.239G>A
  hgvsp: ENSP00000389059.2:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.5G>A
  hgvsp: ENSP00000408588.1:p.Arg2Gln
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.239G>A
  hgvsp: ENSP00000409675.1:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-144G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*91G>A
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg80Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

3-48720379-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720379
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720379
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 21540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.4C>T
  hgvsp: ENSP00000408588.1:p.Arg2Trp
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.238C>T
  hgvsp: ENSP00000409675.1:p.Arg80Trp
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-145C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*90C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.238C>T
  hgvsp: ENSP00000342621.4:p.Arg80Trp
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.238C>T
  hgvsp: ENSP00000389059.2:p.Arg80Trp
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.238C>T
  hgvsp: ENSP00000294129.2:p.Arg80Trp
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10177
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32980
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8059
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31500
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg80Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

3-48720384-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720384
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720384
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 21500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-2C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.233C>A
  hgvsp: ENSP00000294129.2:p.Ala78Asp
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.233C>A
  hgvsp: ENSP00000409675.1:p.Ala78Asp
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.233C>A
  hgvsp: ENSP00000389059.2:p.Ala78Asp
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.233C>A
  hgvsp: ENSP00000342621.4:p.Ala78Asp
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-150C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*85C>A
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9499
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7561
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala78Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-48720389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720389
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720389
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 21468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.228C>T
  hgvsp: ENST00000341520.4:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.228C>T
  hgvsp: ENST00000294129.2:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.228C>T
  hgvsp: ENST00000416649.2:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.228C>T
  hgvsp: ENST00000439518.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-155C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*80C>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33673
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn76Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

3-48720392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720392
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720392
    reference: chr 3
allele count: 2
allele frequency: 9.315323707498835e-5
allele num: 21470
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.225C>T
  hgvsp: ENST00000294129.2:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*77C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.225C>T
  hgvsp: ENST00000439518.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.225C>T
  hgvsp: ENST00000341520.4:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.225C>T
  hgvsp: ENST00000416649.2:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-158C>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33811
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32320
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6078
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His75His
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

3-48720404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720404
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720404
    reference: chr 3
allele count: 1
allele frequency: 4.71253534401508e-5
allele num: 21220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.213C>T
  hgvsp: ENST00000416649.2:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.213C>T
  hgvsp: ENST00000439518.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.213C>T
  hgvsp: ENST00000294129.2:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-22C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.213C>T
  hgvsp: ENST00000341520.4:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*65C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-170C>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Ile71Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

3-48720406-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720406
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720406
    reference: chr 3
allele count: 1
allele frequency: 4.716536175832468e-5
allele num: 21202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-172A>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-24A>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.211A>G
  hgvsp: ENSP00000409675.1:p.Ile71Val
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*63A>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.211A>G
  hgvsp: ENSP00000389059.2:p.Ile71Val
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.211A>G
  hgvsp: ENSP00000294129.2:p.Ile71Val
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.211A>G
  hgvsp: ENSP00000342621.4:p.Ile71Val
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile71Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-48720410-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720410
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720410
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 21146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.207G>A
  hgvsp: ENST00000416649.2:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.207G>A
  hgvsp: ENST00000439518.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*59G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.207G>A
  hgvsp: ENST00000294129.2:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-28G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-176G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.207G>A
  hgvsp: ENST00000341520.4:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31997
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg69Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

3-48720411-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720411
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720411
    reference: chr 3
allele count: 2
allele frequency: 9.476876421531463e-5
allele num: 21104
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.206G>A
  hgvsp: ENSP00000294129.2:p.Arg69Gln
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.206G>A
  hgvsp: ENSP00000389059.2:p.Arg69Gln
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.206G>A
  hgvsp: ENSP00000409675.1:p.Arg69Gln
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.206G>A
  hgvsp: ENSP00000342621.4:p.Arg69Gln
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-29G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*58G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-177G>A
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31698
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg69Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

3-48720412-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720412
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720412
    reference: chr 3
allele count: 2
allele frequency: 9.46611132146914e-5
allele num: 21128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-30C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*57C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.205C>T
  hgvsp: ENSP00000342621.4:p.Arg69Trp
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.205C>T
  hgvsp: ENSP00000389059.2:p.Arg69Trp
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.205C>T
  hgvsp: ENSP00000409675.1:p.Arg69Trp
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-178C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.205C>T
  hgvsp: ENSP00000294129.2:p.Arg69Trp
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33927
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3826
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg69Trp
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

3-48720422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720422
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720422
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 20954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-188G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*47G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.195G>A
  hgvsp: ENST00000416649.2:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.195G>A
  hgvsp: ENST00000294129.2:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.195G>A
  hgvsp: ENST00000439518.1:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-40G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.195G>A
  hgvsp: ENST00000341520.4:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31415
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln65Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

3-48720428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720428
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720428
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 20732
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.189C>T
  hgvsp: ENST00000294129.2:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*41C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-194C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.189C>T
  hgvsp: ENST00000416649.2:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.189C>T
  hgvsp: ENST00000439518.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.189C>T
  hgvsp: ENST00000341520.4:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5344
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val63Val
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-48720444-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720444
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720444
    reference: chr 3
allele count: 1
allele frequency: 5.057145746940427e-5
allele num: 19774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*25G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.173G>A
  hgvsp: ENSP00000389059.2:p.Gly58Asp
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.173G>A
  hgvsp: ENSP00000409675.1:p.Gly58Asp
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-210G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-62G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.173G>A
  hgvsp: ENSP00000342621.4:p.Gly58Asp
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.173G>A
  hgvsp: ENSP00000294129.2:p.Gly58Asp
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27943
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly58Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

3-48720447-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720447
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720448
    reference: chr 3
allele count: 83
allele frequency: 4.378098955586033e-3
allele num: 18958
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-66dupC
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.172-3dupC
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.172-3dupC
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*21dupC
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-211-3dupC
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.172-3dupC
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.172-3dupC
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 27338
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 24388
  bin: 7.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.25e1
  variant carriers: 2
hgvs: c.172-3dupC
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

3-48720447-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720447
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720446
    reference: chr 3
allele count: 1
allele frequency: 5.274818018778352e-5
allele num: 18958
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.172-3delC
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.172-3delC
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.172-3delC
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-211-3delC
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.172-3delC
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-66delC
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*21delC
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27338
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4322
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.25e1
  variant carriers: 0
hgvs: c.172-3delC
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: TG
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS

3-48720449-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720449
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720449
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 19928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-67C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.172-4C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*20C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-211-4C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.172-4C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.172-4C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.172-4C>G
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 26699
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.75e1
  variant carriers: 0
hgvs: c.172-4C>G
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

3-48720450-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720450
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720450
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 20038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-68C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.172-5C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-211-5C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.172-5C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.172-5C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.172-5C>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: splice region
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26990
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4816
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.75e1
  variant carriers: 0
hgvs: c.172-5C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

3-48720450-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720450
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720450
    reference: chr 3
allele count: 1
allele frequency: 4.990518015770037e-5
allele num: 20038
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-211-5C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.172-5C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.172-5C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.172-5C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.172-5C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*19C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-68C>G
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26990
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 2.25e1
  variant carriers: 0
hgvs: c.172-5C>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

3-48720450-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720450
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720450
    reference: chr 3
allele count: 2
allele frequency: 9.981036031540073e-5
allele num: 20038
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*19C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.172-5C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.172-5C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-211-5C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.172-5C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.172-5C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-68C>A
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26990
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 1
hgvs: c.172-5C>A
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

3-48720451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720451
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720451
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 20040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*18C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.172-6C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-69C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.172-6C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-211-6C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.172-6C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.172-6C>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 2.75e1
  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: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
hgvs: c.172-6C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

3-48720456-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720456
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720456
    reference: chr 3
allele count: 2
allele frequency: 1.007353681877707e-4
allele num: 19854
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.172-11G>C
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.172-11G>C
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.172-11G>C
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.172-11G>C
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-74G>C
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.*13G>C
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-211-11G>C
  variant of: http://identifiers.org/hgnc/15486
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

3-48720487-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720487
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720487
    reference: chr 3
allele count: 1
allele frequency: 5.261496369567505e-5
allele num: 19006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.172-42G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.172-42G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.172-42G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.172-13G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-92-13G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-211-42G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.172-42G>A
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

3-48720491-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720491
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720491
    reference: chr 3
allele count: 1
allele frequency: 5.296049147336087e-5
allele num: 18882
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.172-46C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-211-46C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.172-46C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.172-46C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.172-17C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-92-17C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.172-46C>G
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14827
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

3-48720499-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720499
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720498
    reference: chr 3
allele count: 1
allele frequency: 5.421817393190197e-5
allele num: 18444
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.172-55delG
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.172-55delG
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-211-55delG
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.172-55delG
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-92-26delG
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.172-55delG
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.172-26delG
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12347
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: GC
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

3-48720501-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48720501
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48720501
    reference: chr 3
allele count: 1
allele frequency: 5.469861065528935e-5
allele num: 18282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-92-27G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.172-56G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-211-56G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.172-56G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.172-56G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.172-27G>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.172-56G>A
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4584
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

3-48723021-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723021
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723021
    reference: chr 3
allele count: 1
allele frequency: 1.728907330567082e-4
allele num: 5784
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.171+49C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.171+49C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.171+49C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.171+49C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+588C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+588C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.171+49C>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25959
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9545
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

3-48723034-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723034
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723034
    reference: chr 3
allele count: 1
allele frequency: 1.642036124794746e-4
allele num: 6090
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.171+36C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.171+36C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.171+36C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+575C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+575C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.171+36C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.171+36C>A
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

3-48723037-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723037
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723037
    reference: chr 3
allele count: 1
allele frequency: 1.627604166666667e-4
allele num: 6144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+572C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+572C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.171+33C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.171+33C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.171+33C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.171+33C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.171+33C>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26064
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5902
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-48723044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723044
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723044
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 6674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+565C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.171+26C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+565C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.171+26C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.171+26C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.171+26C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.171+26C>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26710
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

3-48723078-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723078
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723078
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 9514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+531C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.163C>T
  hgvsp: ENSP00000389059.2:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.163C>T
  hgvsp: ENSP00000416144.1:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+531C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.163C>T
  hgvsp: ENSP00000342621.4:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.163C>T
  hgvsp: ENSP00000294129.2:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.163C>T
  hgvsp: ENSP00000409675.1:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27398
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg55Cys
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

3-48723110-TCACCACTGCGCGCCCGCGCGGCCAGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723110
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723084
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 10306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsp: ENSP00000389059.2:p.Trp35Ter
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsp: ENSP00000416144.1:p.Trp35Ter
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsp: ENSP00000294129.2:p.Trp35Ter
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsp: ENSP00000342621.4:p.Trp35Ter
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsp: ENSP00000409675.1:p.Trp35Ter
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34371
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Trp35Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: TCACCACTGCGCGCCCGCGCGGCCAGC
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

3-48723150-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723150
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723150
    reference: chr 3
allele count: 1
allele frequency: 8.759635599159075e-5
allele num: 11416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+459A>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.91A>G
  hgvsp: ENSP00000389059.2:p.Ser31Gly
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.91A>G
  hgvsp: ENSP00000294129.2:p.Ser31Gly
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.91A>G
  hgvsp: ENSP00000342621.4:p.Ser31Gly
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.91A>G
  hgvsp: ENSP00000409675.1:p.Ser31Gly
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+459A>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.91A>G
  hgvsp: ENSP00000416144.1:p.Ser31Gly
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser31Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

3-48723156-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723156
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723156
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 11760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.85C>T
  hgvsp: ENSP00000416144.1:p.Arg29Ter
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.85C>T
  hgvsp: ENSP00000409675.1:p.Arg29Ter
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+453C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.85C>T
  hgvsp: ENSP00000389059.2:p.Arg29Ter
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.85C>T
  hgvsp: ENSP00000342621.4:p.Arg29Ter
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.85C>T
  hgvsp: ENSP00000294129.2:p.Arg29Ter
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+453C>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17413
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29331
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg29Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-48723162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723162
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723162
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 12262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+447C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.79C>T
  hgvsp: ENST00000416649.2:c.79C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.79C>T
  hgvsp: ENST00000454134.1:c.79C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.79C>T
  hgvsp: ENST00000341520.4:c.79C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.79C>T
  hgvsp: ENST00000439518.1:c.79C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.79C>T
  hgvsp: ENST00000294129.2:c.79C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+447C>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20068
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  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: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu27Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

3-48723172-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723172
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723172
    reference: chr 3
allele count: 2
allele frequency: 1.549426712116517e-4
allele num: 12908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.69C>T
  hgvsp: ENST00000439518.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.69C>T
  hgvsp: ENST00000341520.4:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.69C>T
  hgvsp: ENST00000416649.2:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.69C>T
  hgvsp: ENST00000454134.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+437C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+437C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.69C>T
  hgvsp: ENST00000294129.2:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22782
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26064
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24908
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr23Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

3-48723178-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723178
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723178
    reference: chr 3
allele count: 1
allele frequency: 7.5642965204236e-5
allele num: 13220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.63C>G
  hgvsp: ENST00000439518.1:c.63C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+431C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+431C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.63C>G
  hgvsp: ENST00000454134.1:c.63C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.63C>G
  hgvsp: ENST00000341520.4:c.63C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.63C>G
  hgvsp: ENST00000416649.2:c.63C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.63C>G
  hgvsp: ENST00000294129.2:c.63C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21238
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly21Gly
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-48723190-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723190
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723190
    reference: chr 3
allele count: 1
allele frequency: 7.180812868016659e-5
allele num: 13926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.51G>T
  hgvsp: ENST00000341520.4:c.51G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.51G>T
  hgvsp: ENST00000454134.1:c.51G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.51G>T
  hgvsp: ENST00000439518.1:c.51G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.51G>T
  hgvsp: ENST00000416649.2:c.51G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.51G>T
  hgvsp: ENST00000294129.2:c.51G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+419G>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+419G>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26066
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21899
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4089
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23868
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala17Ala
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

3-48723204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723204
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723204
    reference: chr 3
allele count: 1
allele frequency: 7.298204641658152e-5
allele num: 13702
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.37C>T
  hgvsp: ENSP00000294129.2:p.Pro13Ser
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+405C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.37C>T
  hgvsp: ENSP00000342621.4:p.Pro13Ser
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.37C>T
  hgvsp: ENSP00000409675.1:p.Pro13Ser
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.37C>T
  hgvsp: ENSP00000389059.2:p.Pro13Ser
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.37C>T
  hgvsp: ENSP00000416144.1:p.Pro13Ser
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+405C>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro13Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-48723212-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723212
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723212
    reference: chr 3
allele count: 1
allele frequency: 7.292882147024503e-5
allele num: 13712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.29C>T
  hgvsp: ENSP00000389059.2:p.Ser10Leu
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.29C>T
  hgvsp: ENSP00000294129.2:p.Ser10Leu
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+397C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.29C>T
  hgvsp: ENSP00000416144.1:p.Ser10Leu
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.29C>T
  hgvsp: ENSP00000409675.1:p.Ser10Leu
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.29C>T
  hgvsp: ENSP00000342621.4:p.Ser10Leu
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+397C>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20340
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser10Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-48723229-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723229
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723229
    reference: chr 3
allele count: 2
allele frequency: 1.790510295434199e-4
allele num: 11170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.12G>T
  hgvsp: ENST00000416649.2:c.12G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.12G>T
  hgvsp: ENST00000341520.4:c.12G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.12G>T
  hgvsp: ENST00000454134.1:c.12G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.12G>T
  hgvsp: ENST00000439518.1:c.12G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.12G>T
  hgvsp: ENST00000294129.2:c.12G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+380G>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+380G>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala4Ala
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

3-48723234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723234
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723234
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 10408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.7C>T
  hgvsp: ENSP00000416144.1:p.Arg3Cys
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+375C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.7C>T
  hgvsp: ENSP00000294129.2:p.Arg3Cys
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.7C>T
  hgvsp: ENSP00000342621.4:p.Arg3Cys
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+375C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.7C>T
  hgvsp: ENSP00000409675.1:p.Arg3Cys
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.7C>T
  hgvsp: ENSP00000389059.2:p.Arg3Cys
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23799
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26057
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24726
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg3Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-48723239-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723239
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723239
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 10056
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.2T>C
  hgvsp: ENSP00000294129.2:p.Met1?
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.2T>C
  hgvsp: ENSP00000409675.1:p.Met1?
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.2T>C
  hgvsp: ENSP00000416144.1:p.Met1?
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+370T>C
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.2T>C
  hgvsp: ENSP00000389059.2:p.Met1?
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.2T>C
  hgvsp: ENSP00000342621.4:p.Met1?
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+370T>C
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: start lost
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-48723249-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723249
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723249
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 8470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+360C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.-9C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.-9C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+360C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.-9C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.-9C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.-9C>G
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22674
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26951
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

3-48723263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723263
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723263
    reference: chr 3
allele count: 1
allele frequency: 1.566416040100251e-4
allele num: 6384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.-23C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+346C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.-23C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.-23C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+346C>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30945
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18129
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 15852
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 424
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

3-48723265-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723265
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723265
    reference: chr 3
allele count: 3
allele frequency: 4.905166775670373e-4
allele num: 6116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+344C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.-25C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+344C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.-25C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.-25C>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31458
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 17416
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genotype depth: GenotypeDepth
  all individuals: 90
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genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 31263
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1273
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

3-48723265-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723265
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723265
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 6116
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.-25C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.-25C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.-25C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+344C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.-25C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.-25C>G
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+344C>G
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17416
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31458
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

3-48723268-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723268
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723268
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 5400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+341C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.-28C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.-28C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+341C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.-28C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000409675
  ensembl transcript: ENST00000439518
  gene symbol: NCKIPSD
  hgvsc: ENST00000439518.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16270
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32042
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31582
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff

3-48723276-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723276
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723276
    reference: chr 3
allele count: 1
allele frequency: 2.711496746203905e-4
allele num: 3688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+333C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.-36C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.-36C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+333C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.-36C>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32232
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7426
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 293
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genotype quality: GenotypeQuality
  all individuals: 4321
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 15
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-48723278-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723278
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723278
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 3628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.-38C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.-38C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+331C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+331C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.-38C>A
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.-38C>A
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14684
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32289
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2020
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30672
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genotype quality: GenotypeQuality
  all individuals: 290
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

3-48723281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723281
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723281
    reference: chr 3
allele count: 3
allele frequency: 9.230769230769231e-4
allele num: 3250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.-41C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+328C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+328C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.-41C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.-41C>T
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.-41C>T
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32170
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14554
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  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30255
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

3-48723289-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723289
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723289
    reference: chr 3
allele count: 1
allele frequency: 4.284490145672665e-4
allele num: 2334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.-49T>C
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.-49T>C
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.-49T>C
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+320T>C
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.-49T>C
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+320T>C
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14337
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8349
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4964
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

3-48723291-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48723291
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48723291
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 2152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000389059
  ensembl transcript: ENST00000416649
  gene symbol: NCKIPSD
  hgvsc: ENST00000416649.2:c.-51T>C
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416144
  ensembl transcript: ENST00000454134
  gene symbol: NCKIPSD
  hgvsc: ENST00000454134.1:c.-51T>C
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000294129
  ensembl transcript: ENST00000294129
  gene symbol: NCKIPSD
  hgvsc: ENST00000294129.2:c.-51T>C
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000416904
  ensembl transcript: ENST00000426678
  gene symbol: NCKIPSD
  hgvsc: ENST00000426678.1:c.-212+318T>C
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000408588
  ensembl transcript: ENST00000453349
  gene symbol: NCKIPSD
  hgvsc: ENST00000453349.1:c.-93+318T>C
  variant of: http://identifiers.org/hgnc/15486
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213672
  ensembl protein: ENSP00000342621
  ensembl transcript: ENST00000341520
  gene symbol: NCKIPSD
  hgvsc: ENST00000341520.4:c.-51T>C
  variant of: http://identifiers.org/hgnc/15486
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14278
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3918
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-48725655-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725655
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725655
    reference: chr 3
allele count: 1
allele frequency: 8.64274355251331e-6
allele num: 115704
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.*51C>G
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4475
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 371
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genotype quality: GenotypeQuality
  all individuals: 3891
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65032
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10306
  num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/3-48725656-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725656
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725656
    reference: chr 3
allele count: 1
allele frequency: 8.648274669203493e-6
allele num: 115630
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.*50G>T
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25654
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4028
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4048
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3891
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11522
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.708737864077671e-5
  allele num: 10300
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 854
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

3-48725664-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725664
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725664
    reference: chr 3
allele count: 1
allele frequency: 8.630808534143478e-6
allele num: 115864
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.*42C>G
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4508
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25652
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4038
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3891
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7914
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.697439875872769e-5
  allele num: 10312
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12888
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65054
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

3-48725665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725665
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725665
    reference: chr 3
allele count: 16
allele frequency: 1.380571901910366e-4
allele num: 115894
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.*41C>T
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7668
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 777
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genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 750
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genotype quality: GenotypeQuality
  all individuals: 114
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genotype quality: GenotypeQuality
  all individuals: 25656
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 7.745933384972889e-5
  allele num: 12910
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8610
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/3-48725668-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725668
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725668
    reference: chr 3
allele count: 1
allele frequency: 8.626192571122958e-6
allele num: 115926
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.*38G>T
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4565
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
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genotype quality: GenotypeQuality
  all individuals: 25643
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 157
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3893
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.536287101333497e-5
  allele num: 65092
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8612
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-48725673-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725673
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725673
    reference: chr 3
allele count: 3
allele frequency: 2.578604459266645e-5
allele num: 116342
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.*33T>C
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 550
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genotype depth: GenotypeDepth
  all individuals: 7622
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3893
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2201
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genotype quality: GenotypeQuality
  all individuals: 8616
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genotype quality: GenotypeQuality
  all individuals: 25643
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 1
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65210
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10322
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

3-48725676-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725676
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725676
    reference: chr 3
allele count: 7
allele frequency: 6.013952369497234e-5
allele num: 116396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.*30G>A
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4048
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25642
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8799
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3894
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10322
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11536
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.023888720895071e-4
  allele num: 6614
  num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

3-48725677-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725677
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725677
    reference: chr 3
allele count: 2
allele frequency: 1.714560043892737e-5
allele num: 116648
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.*29C>T
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25638
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
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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: 2133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4033
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4051
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
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genotype quality: GenotypeQuality
  all individuals: 2405
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10324
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.531628120692296e-5
  allele num: 65290
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

3-48725694-CAGCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725694
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725690
    reference: chr 3
allele count: 1
allele frequency: 8.413259296651523e-6
allele num: 118860
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.*8_*11delAGCT
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4559
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4066
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 89
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14906
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11562
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: CAGCT
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

3-48725704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725704
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725704
    reference: chr 3
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.*2C>T
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15984
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.620935154897056e-5
  allele num: 10394
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

3-48725707-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725707
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725707
    reference: chr 3
allele count: 7593
allele frequency: 6.288927908825868e-2
allele num: 120736
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_retained_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.1280G>A
  hgvsp: ENST00000328631.5:c.1280G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: stop retained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 5.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 9.75e1
  variant carriers: 5960
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 5.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 2.75e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 7673
  bin: 3.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 2.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 3.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 4.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 4.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 6.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.25e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26419
  bin: 9.75e1
  variant carriers: 7267
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3884
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4784
  bin: 6.75e1
  variant carriers: 3
hgvs: p.Ter427Ter
num of homozygotes: 318
population: South Asian
  type: Population
  allele count: 294
  allele frequency: 1.819982666831745e-2
  allele num: 16154
  num of homozygotes: 5
population: European (Non-Finnish)
  type: Population
  allele count: 6109
  allele frequency: 9.192548453111833e-2
  allele num: 66456
  num of homozygotes: 274
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

3-48725766-GAT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725766
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725764
    reference: chr 3
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.1219_1220delAT
  hgvsp: ENSP00000331103.5:p.Ile407LeufsTer15
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 8196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 8674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4599
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 4400
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 5544
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 14250
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile407LeufsTer15
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: GAT
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-48725769-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725769
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725769
    reference: chr 3
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.1218T>C
  hgvsp: ENST00000328631.5:c.1218T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22054
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4599
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 4603
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4400
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2447
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
hgvs: p.Tyr406Tyr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.056201550387597e-5
  allele num: 16512
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10404
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

3-48725795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725795
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725795
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.1192G>A
  hgvsp: ENSP00000331103.5:p.Val398Met
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 8674
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8688
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genotype depth: GenotypeDepth
  all individuals: 266
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 203
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genotype depth: GenotypeDepth
  all individuals: 110
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2790
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  variant carriers: 0
hgvs: p.Val398Met
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498441620714457e-5
  allele num: 66736
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

3-48725798-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725798
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725798
    reference: chr 3
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.1189G>A
  hgvsp: ENSP00000331103.5:p.Val397Met
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6961
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
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genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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genotype depth: GenotypeDepth
  all individuals: 873
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8688
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22051
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val397Met
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

3-48725799-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725799
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725799
    reference: chr 3
allele count: 20
allele frequency: 1.647392178181938e-4
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.1188C>T
  hgvsp: ENST00000328631.5:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22054
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 4600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr396Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

3-48725801-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725801
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725801
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.1186A>G
  hgvsp: ENSP00000331103.5:p.Thr396Ala
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22041
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4602
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4400
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr396Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10404
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

3-48725808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725808
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725808
    reference: chr 3
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.1179C>T
  hgvsp: ENST00000328631.5:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4600
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 14255
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22037
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 4597
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 4401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly393Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 1.922337562475971e-4
  allele num: 10404
  num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

3-48725828-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725828
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725828
    reference: chr 3
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.1159A>G
  hgvsp: ENSP00000331103.5:p.Thr387Ala
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22029
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4399
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2789
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14266
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4594
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 5549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr387Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10404
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

3-48725829-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725829
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725829
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.1158C>T
  hgvsp: ENST00000328631.5:c.1158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4594
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22028
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4601
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His386His
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

3-48725843-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725843
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725843
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.1144A>G
  hgvsp: ENSP00000331103.5:p.Ile382Val
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4592
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22023
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4399
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile382Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11576
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-48725845-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725845
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48725845
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068745
  ensembl protein: ENSP00000331103
  ensembl transcript: ENST00000328631
  gene symbol: IP6K2
  hgvsc: ENST00000328631.5:c.1142T>C
  hgvsp: ENSP00000331103.5:p.Met381Thr
  variant of: http://identifiers.org/hgnc/17313
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met381Thr
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31572
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.071352046282408e-4
allele num: 9334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2864
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.922e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.48e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

DP
type: SiteQuality
SIO_000300: 4.46209e5

FS
type: SiteQuality
SIO_000300: 8.33e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

VQSLOD
type: SiteQuality
SIO_000300: -1.533e0

QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6149
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 9.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.208e-1

QD
type: SiteQuality
SIO_000300: 4.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

DP
type: SiteQuality
SIO_000300: 4.44704e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.569999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 8.565e0

MQ
type: SiteQuality
SIO_000300: 5.832e1

GenotypeQuality
all individuals: 1199
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31935
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6126
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 6.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.619999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.692e1

VQSLOD
type: SiteQuality
SIO_000300: -1.62e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.6e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 4.40279e5

GenotypeQuality
all individuals: 6694
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1719
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6095
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.33866e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.458e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.75e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.836e-1

FS
type: SiteQuality
SIO_000300: 1.2461e1

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.338e0

QD
type: SiteQuality
SIO_000300: 1.253e1

GenotypeQuality
all individuals: 677
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1890
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 271
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6449
bin: 2.25e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

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

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

East Asian
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allele count: 2
allele frequency: 2.666666666666667e-3
allele num: 750
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.31047e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.84e-2

QD
type: SiteQuality
SIO_000300: 1.041e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 9.031000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7902
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.101079057476327e-4
allele num: 9082
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 5.012e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2846
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.102292768959436e-4
allele num: 9072
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 7902
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.10389e5

MQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.407e0

VQSLOD
type: SiteQuality
SIO_000300: -2.188e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.23e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

QD
type: SiteQuality
SIO_000300: 5.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9038
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.05213e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.290000000000001e-2

QD
type: SiteQuality
SIO_000300: 6.01e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 156
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variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.221235006663705e-4
allele num: 9004
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.03162e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 3.165e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.38e-2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.216312056737589e-4
allele num: 9024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.340000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.364e1

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 4.03373e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8900
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.45e-2

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.89324e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 8.16e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2780
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 416
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8732
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 3.7451e5

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 2528
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
type: Population
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Other
type: Population
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allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.235483073881888e-4
allele num: 8094
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Latino
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.98e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 19

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 4.651780967570442e-3
allele num: 7524
num of homozygotes: 0

African
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allele count: 8
allele frequency: 3.202562049639712e-3
allele num: 2498
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
allele count: 2
allele frequency: 1.08695652173913e-2
allele num: 184
num of homozygotes: 0

Latino
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allele frequency: 2.631578947368421e-3
allele num: 380
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 4.776658920733282e-3
allele num: 7746
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
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QD
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ReadPosRankSum
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SIO_000300: -2.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

DP
type: SiteQuality
SIO_000300: 3.55891e5

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.25e1
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GenotypeQuality
all individuals: 239
bin: 9.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.329080276448698e-4
allele num: 7524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7746
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.55891e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

QD
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.44e-1

FS
type: SiteQuality
SIO_000300: 7.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 3.38705e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.72e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.105e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

FS
type: SiteQuality
SIO_000300: 1.8292e1

DP
type: SiteQuality
SIO_000300: 3.37965e5

QD
type: SiteQuality
SIO_000300: 1.298e1

GenotypeQuality
all individuals: 220
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.215953307392996e-4
allele num: 8224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

DP
type: SiteQuality
SIO_000300: 3.37965e5

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 1.8292e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

GenotypeQuality
all individuals: 599
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1490
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 3.753753753753754e-4
allele num: 2664
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.644736842105263e-3
allele num: 608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 3.37965e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

FS
type: SiteQuality
SIO_000300: 1.8292e1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.298e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 194
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.59e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.965e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.467917077986179e-4
allele num: 8104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.801e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.59e-2

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.28561e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

FS
type: SiteQuality
SIO_000300: 1.978e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7568
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7886
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.880000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.291e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.01e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.047e1

DP
type: SiteQuality
SIO_000300: 2.89111e5

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 44
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GenotypeQuality
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variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.268391679350583e-4
allele num: 7884
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7486
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2384
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.762e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.829e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.864e0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.85888e5

MQRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 479
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GenotypeQuality
all individuals: 597
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variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.393922497909116e-4
allele num: 7174
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: -7.03e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: 1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 5.747e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

African
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allele frequency: 4.504504504504505e-4
allele num: 2220
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 7072
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.82e1

DP
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 7.8125e-3
allele num: 128
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 1210
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.787e1

InbreedingCoeff
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SIO_000300: -1.059e-1

VQSLOD
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ClippingRankSum
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DP
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SIO_000300: 1.13601e5

MQRankSum
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FS
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ReadPosRankSum
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SIO_000300: 1.9e-1

BaseQRankSum
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SIO_000300: -7.34e-1

QD
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SIO_000300: 1.497e1

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

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

Other
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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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1298
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 2.255299954894001e-4
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.25313e5

MQRankSum
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MQ
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ReadPosRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 3.91e-1

GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4470
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 7.668711656441718e-4
allele num: 1304
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.28097e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.68e-2

MQ
type: SiteQuality
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BaseQRankSum
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QD
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VQSLOD
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SIO_000300: -1.315e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4840
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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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
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 1438
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

DP
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InbreedingCoeff
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SIO_000300: -9.39e-2

FS
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ClippingRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

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

QD
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DP
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FS
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VQSLOD
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Other
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

DP
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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QD
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MQ
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 2.74649821477616e-4
allele num: 7282
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QD
type: SiteQuality
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DP
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MQ
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 1.312335958005249e-3
allele num: 762
num of homozygotes: 0

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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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

VQSLOD
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SIO_000300: -1.728e0

ClippingRankSum
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DP
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MQRankSum
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InbreedingCoeff
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QD
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FS
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MQ
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ReadPosRankSum
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SIO_000300: 3.18e-1

BaseQRankSum
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SIO_000300: 8.31e-1

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.173913043478261e-4
allele num: 4600
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.5608e1

QD
type: SiteQuality
SIO_000300: 8.94e0

MQRankSum
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SIO_000300: 6.840000000000001e-1

DP
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VQSLOD
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SIO_000300: -1.49e0

ReadPosRankSum
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SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.72e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.79e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.05761316872428e-4
allele num: 4860
num of homozygotes: 0

QD
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 2.25e-1

MQRankSum
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DP
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SIO_000300: 3.73485e5

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.49e-2

BaseQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.970055161544523e-4
allele num: 5076
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African
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East Asian
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Other
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FS
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SIO_000300: 0.0e0

ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 4166
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Other
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Latino
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allele frequency: 0.0e0
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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MQ
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FS
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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Other
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MQ
type: SiteQuality
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VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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DP
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QD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Other
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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BaseQRankSum
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MQ
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DP
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.97e-1

DP
type: SiteQuality
SIO_000300: 2.90899e5

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 12
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 4.672897196261682e-3
allele num: 214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.783e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.54e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.51235e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2724
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.177966101694915e-3
allele num: 944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 2.44747e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.001e0

QD
type: SiteQuality
SIO_000300: 9.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.001e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.26e0

DP
type: SiteQuality
SIO_000300: 2.44747e5

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1190
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.464e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 2.32193e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQ
type: SiteQuality
SIO_000300: 5.763e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.837e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.99e-2

GenotypeQuality
all individuals: 176
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.80046403712297e-4
allele num: 1724
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.0635e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.67e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 0
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.589e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.205e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.067e0

DP
type: SiteQuality
SIO_000300: 2.04371e5

GenotypeQuality
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bin: 1.25e1
variant carriers: 2

GenotypeQuality
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variant carriers: 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

GenotypeQuality
all individuals: 6
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variant carriers: 5

GenotypeQuality
all individuals: 1
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variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.937984496124031e-3
allele num: 1548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.99056e5

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.81e-2

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.002e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.666666666666667e-2
allele num: 60
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1078
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.59e-2

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.91858e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 988
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

DP
type: SiteQuality
SIO_000300: 1.91899e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 2.808e0

VQSLOD
type: SiteQuality
SIO_000300: -2.38e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.81e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

East Asian
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allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.832080200501253e-5
allele num: 12768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

DP
type: SiteQuality
SIO_000300: 2.869545e6

VQSLOD
type: SiteQuality
SIO_000300: 9.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

FS
type: SiteQuality
SIO_000300: 9.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.491e0

QD
type: SiteQuality
SIO_000300: 1.246e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12726
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65008
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.88e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.869716e6

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.874276e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

FS
type: SiteQuality
SIO_000300: 4.669e0

VQSLOD
type: SiteQuality
SIO_000300: 7.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-1

QD
type: SiteQuality
SIO_000300: 1.033e1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65064
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.454898157129001e-3
allele num: 10310
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.874997e6

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.455e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.876676e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.043e0

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.361e1

MQ
type: SiteQuality
SIO_000300: 5.891e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.274795268425842e-4
allele num: 13188
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.071e0

FS
type: SiteQuality
SIO_000300: 8.569000000000001e0

QD
type: SiteQuality
SIO_000300: 2.407e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.69e-1

DP
type: SiteQuality
SIO_000300: 2.882282e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.04e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.665654800233036e-5
allele num: 65226
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.222e0

QD
type: SiteQuality
SIO_000300: 1.282e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 2.885364e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.1e-2

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.88e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

DP
type: SiteQuality
SIO_000300: 2.888276e6

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

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65894
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: -1.357e0

FS
type: SiteQuality
SIO_000300: 5.167e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.156e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 5.739e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

DP
type: SiteQuality
SIO_000300: 2.918505e6

QD
type: SiteQuality
SIO_000300: 6.68e0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.334e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.37e-1

DP
type: SiteQuality
SIO_000300: 2.937142e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.077e1

Latino
type: Population
allele count: 387
allele frequency: 3.343701399688958e-2
allele num: 11574
num of homozygotes: 8

Other
type: Population
allele count: 52
allele frequency: 5.752212389380531e-2
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 172
allele frequency: 1.654482493266641e-2
allele num: 10396
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 579
allele frequency: 8.754157846991231e-2
allele num: 6614
num of homozygotes: 30

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

VQSLOD
type: SiteQuality
SIO_000300: 6.5e0

QD
type: SiteQuality
SIO_000300: 1.238e1

DP
type: SiteQuality
SIO_000300: 3.198385e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.03e0

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
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: 11578
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: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 2.517988e6

MQ
type: SiteQuality
SIO_000300: 6.071e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

FS
type: SiteQuality
SIO_000300: 1.176e0

QD
type: SiteQuality
SIO_000300: 1.54e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

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: 11578
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.005e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

QD
type: SiteQuality
SIO_000300: 1.524e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

DP
type: SiteQuality
SIO_000300: 2.517992e6

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.46e1

VQSLOD
type: SiteQuality
SIO_000300: 9.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.099e0

DP
type: SiteQuality
SIO_000300: 2.517792e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

FS
type: SiteQuality
SIO_000300: 1.804e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

DP
type: SiteQuality
SIO_000300: 2.517745e6

VQSLOD
type: SiteQuality
SIO_000300: -2.015e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.4931e1

QD
type: SiteQuality
SIO_000300: 1.294e1

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.09781826900024e-4
allele num: 66736
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.518092e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

FS
type: SiteQuality
SIO_000300: 1.113e0

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 6.5383e1

QD
type: SiteQuality
SIO_000300: 6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.786e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.49e-1

DP
type: SiteQuality
SIO_000300: 2.516592e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

DP
type: SiteQuality
SIO_000300: 2.516482e6

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.226e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
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: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.19e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

DP
type: SiteQuality
SIO_000300: 2.515965e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.796e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.08e-1

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.515916e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 2.717e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.052e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.333e0

QD
type: SiteQuality
SIO_000300: 1.419e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.023e0

VQSLOD
type: SiteQuality
SIO_000300: -4.274e-1

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.852e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.13e-1

DP
type: SiteQuality
SIO_000300: 2.515637e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.205e0

QD
type: SiteQuality
SIO_000300: 1.385e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-1