4-843900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 843900
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 843900
    reference: chr 4
allele count: 1
allele frequency: 3.977091950365892e-5
allele num: 25144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*45-44G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1125-44G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.1562G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3658-44G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2409G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3230-44G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2894-44G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3421-44G>A
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6962
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

4-843901-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 843901
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 843901
    reference: chr 4
allele count: 54
allele frequency: 2.13472485768501e-3
allele num: 25296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3230-45G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2408G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2894-45G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.1561G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*45-45G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3658-45G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1125-45G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3421-45G>C
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9131
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18207
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27745
  bin: 7.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21074
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17240
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6930
  bin: 1.25e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

4-843904-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 843904
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 843904
    reference: chr 4
allele count: 113
allele frequency: 4.778820942231244e-3
allele num: 23646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3421-48G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2894-48G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2405G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1125-48G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3230-48G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.1558G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*45-48G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3658-48G>A
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 28316
  bin: 7.5e0
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 1.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18162
  bin: 2.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 7635
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 9.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 2.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 14307
  bin: 2.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 20649
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 7028
  bin: 1.75e1
  variant carriers: 8
num of homozygotes: 2
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

4-844673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844673
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844673
    reference: chr 4
allele count: 1
allele frequency: 8.365680631776201e-6
allele num: 119536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1124+51C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3229+51C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3657+51C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2111+51C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.789C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*44+51C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3420+51C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2893+51C>T
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

4-844673-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844673
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844673
    reference: chr 4
allele count: 1
allele frequency: 8.365680631776201e-6
allele num: 119536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3420+51C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1124+51C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3229+51C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.789C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*44+51C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2893+51C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3657+51C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2111+51C>A
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

4-844677-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844677
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844677
    reference: chr 4
allele count: 1
allele frequency: 8.364001338240215e-6
allele num: 119560
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3657+47A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3420+47A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.785A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1124+47A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3229+47A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*44+47A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2111+47A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2893+47A>G
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10810
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

4-844677-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844677
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844678
    reference: chr 4
allele count: 7
allele frequency: 5.85480093676815e-5
allele num: 119560
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3229+46dupC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1124+46dupC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2111+46dupC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3420+46dupC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2893+46dupC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3657+46dupC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.784dupC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*44+46dupC
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10810
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3808
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-844680-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844680
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844680
    reference: chr 4
allele count: 2
allele frequency: 1.672045078335312e-5
allele num: 119614
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*44+44C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2893+44C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1124+44C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3420+44C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.782C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3657+44C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2111+44C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3229+44C>G
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

4-844683-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844683
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844683
    reference: chr 4
allele count: 1
allele frequency: 8.360644772924887e-6
allele num: 119608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1124+41C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.779C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2893+41C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*44+41C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3229+41C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3657+41C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3420+41C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2111+41C>G
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10787
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

4-844684-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844684
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844684
    reference: chr 4
allele count: 5
allele frequency: 4.17913441767941e-5
allele num: 119642
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*44+40T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.778T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1124+40T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3229+40T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2893+40T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3657+40T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3420+40T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2111+40T>C
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10786
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

4-844686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844686
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844686
    reference: chr 4
allele count: 1
allele frequency: 8.354637659364713e-6
allele num: 119694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*44+38C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1124+38C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2893+38C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2111+38C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3229+38C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3657+38C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3420+38C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.776C>T
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13594
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10784
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/4-844695-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844695
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844695
    reference: chr 4
allele count: 2
allele frequency: 1.668724760537997e-5
allele num: 119852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3229+29G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3657+29G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1124+29G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2893+29G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.767G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*44+29G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3420+29G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2111+29G>T
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10783
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-844700-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844700
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844700
    reference: chr 4
allele count: 3
allele frequency: 2.497710432103905e-5
allele num: 120110
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2111+24T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*44+24T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3657+24T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.762T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3420+24T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1124+24T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3229+24T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2893+24T>C
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13677
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ

4-844701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844701
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844701
    reference: chr 4
allele count: 1
allele frequency: 8.32279113123377e-6
allele num: 120152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3420+23C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2893+23C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.761C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1124+23C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2111+23C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*44+23C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3229+23C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3657+23C>T
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19473
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

4-844708-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844708
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844708
    reference: chr 4
allele count: 17
allele frequency: 1.413133832086451e-4
allele num: 120300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3420+16G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3657+16G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*44+16G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1124+16G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.754G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3229+16G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2111+16G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2893+16G>C
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8914
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7921
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10782
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

4-844710-G-GGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844710
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844713
    reference: chr 4
allele count: 27
allele frequency: 2.242375921865657e-4
allele num: 120408
alternate allele: GGGA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1124+13_1124+14insTCC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*44+13_*44+14insTCC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2893+13_2893+14insTCC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3420+13_3420+14insTCC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3229+13_3229+14insTCC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3657+13_3657+14insTCC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2111+13_2111+14insTCC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.751_752insTCC
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13764
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3762
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

4-844710-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844710
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844710
    reference: chr 4
allele count: 25
allele frequency: 2.07627400172746e-4
allele num: 120408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*44+14C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3229+14C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2893+14C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2111+14C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3420+14C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3657+14C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1124+14C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.752C>A
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13764
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19773
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8978
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3762
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28089
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

4-844711-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844711
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844711
    reference: chr 4
allele count: 27
allele frequency: 2.242264188549504e-4
allele num: 120414
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2111+13G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2893+13G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1124+13G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3229+13G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.751G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3657+13G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3420+13G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*44+13G>C
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10777
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

4-844711-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844711
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844711
    reference: chr 4
allele count: 1
allele frequency: 8.304682179812978e-6
allele num: 120414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1124+13G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2111+13G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*44+13G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3229+13G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2893+13G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.751G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3420+13G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3657+13G>A
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10777
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7957
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

4-844717-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844717
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844717
    reference: chr 4
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1124+7G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3657+7G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3229+7G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*44+7G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2893+7G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3420+7G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2111+7G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.745G>A
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13869
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
hgvs: c.3657+7G>A
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/4-844728-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844728
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844728
    reference: chr 4
allele count: 258
allele frequency: 2.132548643599875e-3
allele num: 120982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.734T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3416T>G
  hgvsp: ENSP00000421361.1:p.Leu1139Arg
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2889T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*40T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2107T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1120T>G
  hgvsp: ENSP00000421049.1:p.Leu374Arg
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3653T>G
  hgvsp: ENSP00000314499.4:p.Leu1218Arg
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3225T>G
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20267
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 9194
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 13915
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu1218Arg
num of homozygotes: 6
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

4-844739-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844739
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844739
    reference: chr 4
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1109C>T
  hgvsp: ENST00000511980.1:c.1109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3214C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2096C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3405C>T
  hgvsp: ENST00000511163.1:c.3405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.723C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2878C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3642C>T
  hgvsp: ENST00000314167.4:c.3642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp1214Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

4-844742-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844742
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844742
    reference: chr 4
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.720G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3639G>A
  hgvsp: ENST00000314167.4:c.3639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3211G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3402G>A
  hgvsp: ENST00000511163.1:c.3402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1106G>A
  hgvsp: ENST00000511980.1:c.1106G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2875G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2093G>A
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14036
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr1213Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

4-844756-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844756
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844756
    reference: chr 4
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3388C>G
  hgvsp: ENSP00000421361.1:p.Leu1130Val
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3625C>G
  hgvsp: ENSP00000314499.4:p.Leu1209Val
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2861C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1092C>G
  hgvsp: ENSP00000421049.1:p.Leu365Val
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3197C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.706C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*12C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2079C>G
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu1209Val
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

4-844763-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844763
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844763
    reference: chr 4
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3618G>A
  hgvsp: ENST00000314167.4:c.3618G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1085G>A
  hgvsp: ENST00000511980.1:c.1085G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2854G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.699G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3381G>A
  hgvsp: ENST00000511163.1:c.3381G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3190G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2072G>A
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys1206Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

4-844781-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844781
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844781
    reference: chr 4
allele count: 7357
allele frequency: 6.061829507440304e-2
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1067C>T
  hgvsp: ENST00000511980.1:c.1067C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3363C>T
  hgvsp: ENST00000511163.1:c.3363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2836C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2054C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.197C>T
  hgvsp: ENSP00000424553.1:p.Pro66Leu
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3600C>T
  hgvsp: ENST00000314167.4:c.3600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3172C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.681C>T
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13380
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 8787
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 9.75e1
  variant carriers: 5604
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.25e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 20110
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 275
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro66Leu
num of homozygotes: 334
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-844785-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844785
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844785
    reference: chr 4
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2832A>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.193A>C
  hgvsp: ENST00000504668.1:c.193A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2050A>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3359A>C
  hgvsp: ENSP00000421361.1:p.Lys1120Thr
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1063A>C
  hgvsp: ENSP00000421049.1:p.Lys355Thr
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3596A>C
  hgvsp: ENSP00000314499.4:p.Lys1199Thr
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3168A>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.677A>C
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8967
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6401
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys1199Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

4-844788-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844788
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844788
    reference: chr 4
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2829C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.190C>T
  hgvsp: ENSP00000424553.1:p.Gln64Ter
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2047C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1060C>T
  hgvsp: ENSP00000421049.1:p.Pro354Leu
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3165C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.674C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3356C>T
  hgvsp: ENSP00000421361.1:p.Pro1119Leu
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3593C>T
  hgvsp: ENSP00000314499.4:p.Pro1198Leu
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4033
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln64Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/4-844792-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844792
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844792
    reference: chr 4
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3352G>T
  hgvsp: ENSP00000421361.1:p.Gly1118Trp
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2043G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3589G>T
  hgvsp: ENSP00000314499.4:p.Gly1197Trp
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.186G>T
  hgvsp: ENSP00000424553.1:p.Lys62Asn
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.670G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1056G>T
  hgvsp: ENSP00000421049.1:p.Gly353Trp
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3161G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2825G>T
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4033
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8971
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly1197Trp
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

4-844793-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844793
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844793
    reference: chr 4
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2042A>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3588A>T
  hgvsp: ENSP00000314499.4:p.Lys1196Asn
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2824A>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.185A>T
  hgvsp: ENSP00000424553.1:p.Lys62Met
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1055A>T
  hgvsp: ENSP00000421049.1:p.Lys352Asn
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3351A>T
  hgvsp: ENSP00000421361.1:p.Lys1117Asn
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3160A>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.669A>T
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys1196Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

4-844799-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844799
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844799
    reference: chr 4
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3154C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2036C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1049C>G
  hgvsp: ENSP00000421049.1:p.Asp350Glu
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2818C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3582C>G
  hgvsp: ENSP00000314499.4:p.Asp1194Glu
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.179C>G
  hgvsp: ENSP00000424553.1:p.Thr60Arg
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.663C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3345C>G
  hgvsp: ENSP00000421361.1:p.Asp1115Glu
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp1194Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-844802-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844802
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844802
    reference: chr 4
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.660T>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1046T>A
  hgvsp: ENST00000511980.1:c.1046T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3342T>A
  hgvsp: ENST00000511163.1:c.3342T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2033T>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.176T>A
  hgvsp: ENSP00000424553.1:p.Leu59Gln
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3579T>A
  hgvsp: ENST00000314167.4:c.3579T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3151T>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2815T>A
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6397
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  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: 3040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu59Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

4-844803-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844803
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844803
    reference: chr 4
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.175C>G
  hgvsp: ENSP00000424553.1:p.Leu59Val
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2814C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3341C>G
  hgvsp: ENSP00000421361.1:p.Ser1114Cys
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2032C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1045C>G
  hgvsp: ENSP00000421049.1:p.Ser349Cys
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3150C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3578C>G
  hgvsp: ENSP00000314499.4:p.Ser1193Cys
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.659C>G
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8970
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6396
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser1193Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/4-844806-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844806
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844806
    reference: chr 4
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2029G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2811G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3575G>T
  hgvsp: ENSP00000314499.4:p.Arg1192Met
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-1G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3147G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3338G>T
  hgvsp: ENSP00000421361.1:p.Arg1113Met
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.656G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1042G>T
  hgvsp: ENSP00000421049.1:p.Arg348Met
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: c.173-1G>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

4-844808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844808
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844808
    reference: chr 4
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.654C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3573C>T
  hgvsp: ENST00000314167.4:c.3573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-3C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1040C>T
  hgvsp: ENST00000511980.1:c.1040C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3145C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3336C>T
  hgvsp: ENST00000511163.1:c.3336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2027C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2809C>T
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22795
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 7.25e1
  variant carriers: 0
hgvs: c.173-3C>T
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

4-844812-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844812
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844812
    reference: chr 4
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3569C>G
  hgvsp: ENSP00000314499.4:p.Ser1190Cys
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1036C>G
  hgvsp: ENSP00000421049.1:p.Ser346Cys
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3332C>G
  hgvsp: ENSP00000421361.1:p.Ser1111Cys
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2805C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.650C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-7C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2023C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3141C>G
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6392
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1190Cys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

4-844816-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844816
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844816
    reference: chr 4
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1032T>C
  hgvsp: ENSP00000421049.1:p.Phe345Leu
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.646T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-11T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3137T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2019T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3328T>C
  hgvsp: ENSP00000421361.1:p.Phe1110Leu
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3565T>C
  hgvsp: ENSP00000314499.4:p.Phe1189Leu
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2801T>C
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe1189Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

4-844830-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844830
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844830
    reference: chr 4
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.632T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2787T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3551T>C
  hgvsp: ENSP00000314499.4:p.Leu1184Ser
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3123T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1018T>C
  hgvsp: ENSP00000421049.1:p.Leu340Ser
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3314T>C
  hgvsp: ENSP00000421361.1:p.Leu1105Ser
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2005T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-25T>C
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6391
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu1184Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

4-844834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844834
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844834
    reference: chr 4
allele count: 31
allele frequency: 2.554004844370479e-4
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3119C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.2001C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.628C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3310C>T
  hgvsp: ENST00000511163.1:c.3310C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3547C>T
  hgvsp: ENST00000314167.4:c.3547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2783C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1014C>T
  hgvsp: ENST00000511980.1:c.1014C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-29C>T
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8971
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu1183Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

4-844847-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844847
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844847
    reference: chr 4
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3106C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3534C>T
  hgvsp: ENST00000314167.4:c.3534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.615C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3297C>T
  hgvsp: ENST00000511163.1:c.3297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1988C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.1001C>T
  hgvsp: ENST00000511980.1:c.1001C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2770C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-42C>T
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn1178Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-844853-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844853
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844853
    reference: chr 4
allele count: 6
allele frequency: 4.945516888940176e-5
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.609T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2764T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3528T>C
  hgvsp: ENST00000314167.4:c.3528T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3100T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1982T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-48T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3291T>C
  hgvsp: ENST00000511163.1:c.3291T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.995T>C
  hgvsp: ENST00000511980.1:c.995T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser1176Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-844858-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844858
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844858
    reference: chr 4
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-53G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3095G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3523G>T
  hgvsp: ENSP00000314499.4:p.Val1175Phe
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.990G>T
  hgvsp: ENSP00000421049.1:p.Val331Phe
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1977G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2759G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.604G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3286G>T
  hgvsp: ENSP00000421361.1:p.Val1096Phe
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32707
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val1175Phe
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

4-844865-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844865
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844864
    reference: chr 4
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3278delA
  hgvsp: ENSP00000421361.1:p.Lys1093SerfsTer33
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1969delA
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2751delA
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3087delA
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3515delA
  hgvsp: ENSP00000314499.4:p.Lys1172SerfsTer33
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.982delA
  hgvsp: ENSP00000421049.1:p.Lys328SerfsTer33
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-61delA
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.596delA
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys1172SerfsTer33
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: CT
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

4-844866-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844866
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844866
    reference: chr 4
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3087A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-61A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3278A>G
  hgvsp: ENSP00000421361.1:p.Lys1093Arg
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2751A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.982A>G
  hgvsp: ENSP00000421049.1:p.Lys328Arg
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3515A>G
  hgvsp: ENSP00000314499.4:p.Lys1172Arg
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.596A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1969A>G
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6350
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys1172Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/4-844879-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844879
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844879
    reference: chr 4
allele count: 2
allele frequency: 1.658182300562124e-5
allele num: 120614
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.976-7T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1963-7T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3272-7T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2738T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3509-7T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-74T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3074T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.583T>G
  variant of: http://identifiers.org/hgnc/4113
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
hgvs: c.3509-7T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-844881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844881
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844881
    reference: chr 4
allele count: 1
allele frequency: 8.296414289743973e-6
allele num: 120534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3272-9C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3072C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2736C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-76C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.581C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.976-9C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3509-9C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1963-9C>T
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15206
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3987
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

4-844881-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844881
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844881
    reference: chr 4
allele count: 5
allele frequency: 4.148207144871987e-5
allele num: 120534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-76C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.581C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2736C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3509-9C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.976-9C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3072C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3272-9C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1963-9C>G
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6347
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

4-844883-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844883
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844883
    reference: chr 4
allele count: 9
allele frequency: 7.475952353263668e-5
allele num: 120386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1963-11T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3070T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2734T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.976-11T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.579T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3272-11T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-78T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3509-11T>C
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15159
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2977
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-844884-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844884
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844884
    reference: chr 4
allele count: 1
allele frequency: 8.316008316008316e-6
allele num: 120250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2733G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.578G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3069G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.976-12G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3509-12G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3272-12G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-79G>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1963-12G>T
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/4-844888-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844888
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844888
    reference: chr 4
allele count: 1
allele frequency: 8.350591221858508e-6
allele num: 119752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.574T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2729T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3272-16T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.976-16T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1963-16T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3065T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3509-16T>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-83T>G
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6340
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

4-844890-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844890
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844891
    reference: chr 4
allele count: 2
allele frequency: 1.683388324018585e-5
allele num: 118808
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2726dupA
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-86dupA
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1963-19dupA
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3509-19dupA
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3062dupA
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.571dupA
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3272-19dupA
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.976-19dupA
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21497
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

4-844892-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844892
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844892
    reference: chr 4
allele count: 1
allele frequency: 8.42034355001684e-6
allele num: 118760
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3509-20A>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-87A>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1963-20A>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2725A>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3061A>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.570A>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3272-20A>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.976-20A>T
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-844892-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844892
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844892
    reference: chr 4
allele count: 3
allele frequency: 2.526103065005052e-5
allele num: 118760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3272-20A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2725A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-87A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3509-20A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3061A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.570A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1963-20A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.976-20A>G
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

4-844896-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844896
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844896
    reference: chr 4
allele count: 19
allele frequency: 1.601105605554994e-4
allele num: 118668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3057A>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.976-24A>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.566A>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3509-24A>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2721A>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1963-24A>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3272-24A>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-91A>T
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13937
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20806
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

4-844905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844905
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844905
    reference: chr 4
allele count: 1
allele frequency: 8.498631720293032e-6
allele num: 117666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3048C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-100C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2712C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3509-33C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.976-33C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.557C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3272-33C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1963-33C>T
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11544
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7066
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3756
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

4-844909-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844909
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844909
    reference: chr 4
allele count: 1
allele frequency: 8.538251366120219e-6
allele num: 117120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.976-37C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.553C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2708C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3272-37C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1963-37C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3044C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3509-37C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-104C>G
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

4-844909-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844909
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844909
    reference: chr 4
allele count: 1
allele frequency: 8.538251366120219e-6
allele num: 117120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3272-37C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2708C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-104C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1963-37C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3044C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3509-37C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.553C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.976-37C>A
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-844912-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844912
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844912
    reference: chr 4
allele count: 13
allele frequency: 1.113547591310903e-4
allele num: 116744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2705A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3272-40A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-107A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.976-40A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1963-40A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.550A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3041A>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3509-40A>G
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8828
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15983
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

4-844914-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844914
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844914
    reference: chr 4
allele count: 1
allele frequency: 8.602742554326319e-6
allele num: 116242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2703A>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1963-42A>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3272-42A>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.976-42A>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3039A>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3509-42A>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.548A>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-109A>C
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6179
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

4-844918-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 844918
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 844918
    reference: chr 4
allele count: 19
allele frequency: 1.641582139586321e-4
allele num: 115742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1963-46G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.173-113G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.3035G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3509-46G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3272-46G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000502799
  gene symbol: GAK
  hgvsc: ENST00000502799.1:n.544G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.976-46G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2699G>A
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10701
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8548
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6191
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

4-845494-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 845494
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 845494
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 116046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3271+44C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.172+44C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.2459C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3508+44C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1962+44C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.975+44C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2123C>T
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-845497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 845497
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 845497
    reference: chr 4
allele count: 1
allele frequency: 8.612225915910226e-6
allele num: 116114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.172+41C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.2456C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2120C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1962+41C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3508+41C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3271+41C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.975+41C>T
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

4-845499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 845499
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 845499
    reference: chr 4
allele count: 1
allele frequency: 8.61000137760022e-6
allele num: 116144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.2454G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.172+39G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3508+39G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2118G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1962+39G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3271+39G>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.975+39G>A
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34508
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

4-845508-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 845508
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 845508
    reference: chr 4
allele count: 3
allele frequency: 2.582333396457039e-5
allele num: 116174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.975+30G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.2445G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1962+30G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2109G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.172+30G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3508+30G>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3271+30G>C
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9947
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34829
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

4-845514-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 845514
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 845514
    reference: chr 4
allele count: 4
allele frequency: 3.440031648291164e-5
allele num: 116278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.2439T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3508+24T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.172+24T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2103T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.975+24T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3271+24T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1962+24T>C
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

4-845520-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 845520
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 845520
    reference: chr 4
allele count: 2
allele frequency: 1.719069639511097e-5
allele num: 116342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.172+18T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2097T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3508+18T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.2433T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.975+18T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3271+18T>C
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1962+18T>C
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

4-845523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 845523
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 845523
    reference: chr 4
allele count: 1
allele frequency: 8.594166279929183e-6
allele num: 116358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3271+15C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2094C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3508+15C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.975+15C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1962+15C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.2430C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.172+15C>T
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

4-845523-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 845523
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 845523
    reference: chr 4
allele count: 1
allele frequency: 8.594166279929183e-6
allele num: 116358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.172+15C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2094C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.2430C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3271+15C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3508+15C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.975+15C>A
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1962+15C>A
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

4-845525-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 845525
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 845525
    reference: chr 4
allele count: 1
allele frequency: 8.592246356887545e-6
allele num: 116384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1962+13C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3508+13C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2092C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.2428C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.172+13C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3271+13C>G
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.975+13C>G
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10110
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

4-845526-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 845526
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 845525
    reference: chr 4
allele count: 2
allele frequency: 1.718862800371275e-5
allele num: 116356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.2426delC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3271+11delC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.975+11delC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2090delC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3508+11delC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1962+11delC
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.172+11delC
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: TG
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

4-845527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 845527
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 845527
    reference: chr 4
allele count: 3
allele frequency: 2.576744026248433e-5
allele num: 116426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000509566
  gene symbol: GAK
  hgvsc: ENST00000509566.1:n.1962+11C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000515868
  gene symbol: GAK
  hgvsc: ENST00000515868.1:n.2426C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421049
  ensembl transcript: ENST00000511980
  gene symbol: GAK
  hgvsc: ENST00000511980.1:c.975+11C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000421361
  ensembl transcript: ENST00000511163
  gene symbol: GAK
  hgvsc: ENST00000511163.1:c.3271+11C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000424553
  ensembl transcript: ENST00000504668
  gene symbol: GAK
  hgvsc: ENST00000504668.1:c.172+11C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178950
  ensembl protein: ENSP00000314499
  ensembl transcript: ENST00000314167
  gene symbol: GAK
  hgvsc: ENST00000314167.4:c.3508+11C>T
  variant of: http://identifiers.org/hgnc/4113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178950
  ensembl transcript: ENST00000511345
  gene symbol: GAK
  hgvsc: ENST00000511345.1:n.2090C>T
  variant of: http://identifiers.org/hgnc/4113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 883
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5496
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21009
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16905
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5118
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: 1
allele frequency: 7.971938775510203e-5
allele num: 12544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1740
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

MQ
type: SiteQuality
SIO_000300: 5.908e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.26e-2

DP
type: SiteQuality
SIO_000300: 4.47581e5

QD
type: SiteQuality
SIO_000300: 1.546e1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.283e-1

GenotypeQuality
all individuals: 565
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5166
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 57
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 267
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 897
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 512
bin: 9.75e1
variant carriers: 65

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 139
bin: 7.25e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

African
type: Population
allele count: 53
allele frequency: 1.987996999249813e-2
allele num: 2666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.931472081218273e-5
allele num: 12608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5182
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

QD
type: SiteQuality
SIO_000300: 1.276e1

FS
type: SiteQuality
SIO_000300: 1.419e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.13e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 4.47882e5

GenotypeQuality
all individuals: 271
bin: 6.75e1
variant carriers: 10

GenotypeQuality
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bin: 7.25e1
variant carriers: 8

GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 13

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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bin: 9.75e1
variant carriers: 124

GenotypeQuality
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bin: 5.75e1
variant carriers: 10

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.587301587301587e-2
allele num: 504
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.050505050505051e-3
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 2.369668246445498e-3
allele num: 2110
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 7.751937984496124e-4
allele num: 2580
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 1.221001221001221e-3
allele num: 4914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 91
allele frequency: 7.784431137724551e-3
allele num: 11690
num of homozygotes: 2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.301e1

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
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SIO_000300: 4.44816e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.02e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.465795939480151e-5
allele num: 15466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
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: 4.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

DP
type: SiteQuality
SIO_000300: 1.974871e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7749
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66066
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.974871e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.342e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7754
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51372952680815e-5
allele num: 66062
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15490
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.977274e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

QD
type: SiteQuality
SIO_000300: 1.24e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

FS
type: SiteQuality
SIO_000300: 9.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7754
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.0823771608489e-5
allele num: 66062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15490
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

FS
type: SiteQuality
SIO_000300: 9.14e-1

DP
type: SiteQuality
SIO_000300: 1.977274e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.24e1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 111
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026817603971185e-5
allele num: 66076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15516
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.1e0

VQSLOD
type: SiteQuality
SIO_000300: -6.328e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.034e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

QD
type: SiteQuality
SIO_000300: 1.343e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e0

DP
type: SiteQuality
SIO_000300: 1.979109e6

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.513317191283293e-5
allele num: 66080
num of homozygotes: 0

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

South Asian
type: Population
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: 8636
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.851e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.44e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.844e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.982007e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15524
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.53953938807009e-5
allele num: 66086
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.98e-1

BaseQRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.493e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

GenotypeQuality
all individuals: 334
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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
all individuals: 450
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GenotypeQuality
all individuals: 3754
bin: 7.75e1
variant carriers: 0

East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.512630464377553e-5
allele num: 66110
num of homozygotes: 0

European (Finnish)
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allele count: 0
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

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

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

South Asian
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allele frequency: 0.0e0
allele num: 15640
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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: 2
allele frequency: 3.023523009010099e-5
allele num: 66148
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11552
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Other
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ClippingRankSum
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QD
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DP
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FS
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

East Asian
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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
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num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 3.027550711474417e-4
allele num: 6606
num of homozygotes: 0

South Asian
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allele frequency: 6.333122229259025e-5
allele num: 15790
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
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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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 66258
num of homozygotes: 0

East Asian
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South Asian
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.003413e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.887979861548143e-4
allele num: 15890
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66316
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 14
allele frequency: 1.622247972190035e-3
allele num: 8630
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African
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QD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
type: SiteQuality
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MQ
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.010238e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 10388
num of homozygotes: 0

East Asian
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allele frequency: 3.121387283236994e-3
allele num: 8650
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66332
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Other
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allele num: 898
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European (Finnish)
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South Asian
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Latino
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MQ
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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ClippingRankSum
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DP
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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Other
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East Asian
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Latino
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European (Non-Finnish)
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VQSLOD
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ClippingRankSum
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MQ
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8650
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Latino
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allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.921e0

ReadPosRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.639e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.212e0

QD
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SIO_000300: 1.087e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

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

Latino
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allele count: 10
allele frequency: 8.644536652835408e-4
allele num: 11568
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.224889759921607e-4
allele num: 16328
num of homozygotes: 1

African
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allele count: 245
allele frequency: 2.358036573628489e-2
allele num: 10390
num of homozygotes: 5

Other
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allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8650
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FS
type: SiteQuality
SIO_000300: 5.85e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
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DP
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ClippingRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

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

African
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allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16442
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -2.1e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

MQRankSum
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DP
type: SiteQuality
SIO_000300: 2.023276e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

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

African
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allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
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Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.81e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

VQSLOD
type: SiteQuality
SIO_000300: -4.77e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e0

DP
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SIO_000300: 2.02452e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.7e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.026369e6

VQSLOD
type: SiteQuality
SIO_000300: 6.45e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.202e0

QD
type: SiteQuality
SIO_000300: 1.652e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.311e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.88e-1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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Latino
type: Population
allele count: 1
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allele num: 11576
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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allele num: 16512
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.98e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

MQRankSum
type: SiteQuality
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DP
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SIO_000300: 2.026834e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
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SIO_000300: -4.76e0

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

European (Non-Finnish)
type: Population
allele count: 6005
allele frequency: 9.00218870866189e-2
allele num: 66706
num of homozygotes: 305

East Asian
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allele count: 5
allele frequency: 5.779010633379565e-4
allele num: 8652
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European (Finnish)
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allele count: 284
allele frequency: 4.293921983671001e-2
allele num: 6614
num of homozygotes: 9

South Asian
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allele count: 425
allele frequency: 2.57419745608722e-2
allele num: 16510
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Latino
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allele count: 422
allele frequency: 3.644843669027466e-2
allele num: 11578
num of homozygotes: 7

African
type: Population
allele count: 168
allele frequency: 1.615695326024235e-2
allele num: 10398
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Other
type: Population
allele count: 48
allele frequency: 5.286343612334802e-2
allele num: 908
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

BaseQRankSum
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FS
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DP
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VQSLOD
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.84e-2

ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

Latino
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Other
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South Asian
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East Asian
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African
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European (Finnish)
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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QD
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MQRankSum
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FS
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MQ
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BaseQRankSum
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SIO_000300: -2.91e-1

ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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Other
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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MQ
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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SIO_000300: -6.1e-1

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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African
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Other
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European (Non-Finnish)
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allele num: 66710
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South Asian
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

East Asian
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European (Finnish)
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VQSLOD
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MQRankSum
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FS
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QD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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Latino
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MQ
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InbreedingCoeff
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VQSLOD
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DP
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QD
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MQRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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East Asian
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South Asian
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ClippingRankSum
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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FS
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8652
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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African
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European (Non-Finnish)
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Other
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MQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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African
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Latino
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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QD
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MQ
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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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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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Other
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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DP
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FS
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MQRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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DP
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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South Asian
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FS
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BaseQRankSum
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QD
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ClippingRankSum
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DP
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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BaseQRankSum
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FS
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MQ
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MQRankSum
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QD
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South 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 count: 24
allele frequency: 3.597553663508814e-4
allele num: 66712
num of homozygotes: 0

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

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

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

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

European (Finnish)
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allele count: 7
allele frequency: 1.058361052313275e-3
allele num: 6614
num of homozygotes: 0

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

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

South Asian
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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

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.276e0

MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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QD
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BaseQRankSum
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SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

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

East Asian
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allele frequency: 5.783021050196623e-4
allele num: 8646
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

African
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allele count: 0
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Other
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.443e0

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
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QD
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.683e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-1

MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.071e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.124e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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QD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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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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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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FS
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VQSLOD
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DP
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66338
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Latino
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African
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European (Finnish)
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South Asian
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East Asian
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Other
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MQ
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MQRankSum
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FS
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DP
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QD
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16296
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East Asian
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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DP
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1566
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.54261577915221e-5
allele num: 66290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.443e1

FS
type: SiteQuality
SIO_000300: 3.271e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

DP
type: SiteQuality
SIO_000300: 1.898661e6

VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
all individuals: 3986
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

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

South Asian
type: Population
allele count: 9
allele frequency: 5.538461538461539e-4
allele num: 16250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66230
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: 8538
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

DP
type: SiteQuality
SIO_000300: 1.894705e6

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 2.692e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.68e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66158
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.53e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.219e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.575e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.72e-1

FS
type: SiteQuality
SIO_000300: 1.2071e1

DP
type: SiteQuality
SIO_000300: 1.892123e6

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
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 count: 1
allele frequency: 6.221226825930074e-5
allele num: 16074
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65902
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.54e-1

DP
type: SiteQuality
SIO_000300: 1.875942e6

QD
type: SiteQuality
SIO_000300: 1.233e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526577718071627e-5
allele num: 65506
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.707767328456984e-5
allele num: 11484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15724
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.18e-1

MQ
type: SiteQuality
SIO_000300: 5.994e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

DP
type: SiteQuality
SIO_000300: 1.865331e6

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

QD
type: SiteQuality
SIO_000300: 7.83e0

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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variant carriers: 1

GenotypeQuality
all individuals: 2982
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15788
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528257480820369e-5
allele num: 65434
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.43e-1

QD
type: SiteQuality
SIO_000300: 1.388e1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

FS
type: SiteQuality
SIO_000300: 1.663e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

DP
type: SiteQuality
SIO_000300: 1.840006e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.900177349885989e-4
allele num: 15788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.840006e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

FS
type: SiteQuality
SIO_000300: 1.663e0

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.43e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.941e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

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

South Asian
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allele count: 6
allele frequency: 3.800836183960471e-4
allele num: 15786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.529706908156397e-4
allele num: 65372
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.611420612813371e-4
allele num: 11488
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.807193e6

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15500
num of homozygotes: 0

African
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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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.540309910353963e-5
allele num: 64922
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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QD
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DP
type: SiteQuality
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.925e1

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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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64670
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.960159362549801e-5
allele num: 10040
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

QD
type: SiteQuality
SIO_000300: 1.159e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.686544e6

MQRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
all individuals: 19514
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6194
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2557
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546312045770837e-5
allele num: 64670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15334
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.159e1

DP
type: SiteQuality
SIO_000300: 1.686544e6

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
all individuals: 636
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 14

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2038
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variant carriers: 0

GenotypeQuality
all individuals: 2560
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.919494869771113e-4
allele num: 15204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549186676994578e-5
allele num: 64550
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.141552511415525e-3
allele num: 876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.751927119831815e-4
allele num: 11416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.542e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

QD
type: SiteQuality
SIO_000300: 1.443e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-1

DP
type: SiteQuality
SIO_000300: 1.661248e6

GenotypeQuality
all individuals: 3615
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2507
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variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.230012300123001e-4
allele num: 8130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.642307e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.95e-1

QD
type: SiteQuality
SIO_000300: 1.785e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 1.2563e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.746e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.46e-1

GenotypeQuality
all individuals: 2453
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2422
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1079
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variant carriers: 0

GenotypeQuality
all individuals: 2147
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 1.920355771174449e-3
allele num: 9894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14856
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

DP
type: SiteQuality
SIO_000300: 1.621721e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

QD
type: SiteQuality
SIO_000300: 1.466e1

GenotypeQuality
all individuals: 358
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3223
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 680
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variant carriers: 0

GenotypeQuality
all individuals: 10217
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variant carriers: 0

GenotypeQuality
all individuals: 3441
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variant carriers: 0

GenotypeQuality
all individuals: 143
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variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8954
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -2.327e0

FS
type: SiteQuality
SIO_000300: 2.433e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.296e1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 1.665812e6

MQ
type: SiteQuality
SIO_000300: 5.811e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

GenotypeQuality
all individuals: 353
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
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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: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1878
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GenotypeQuality
all individuals: 34461
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8968
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516530178950561e-4
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.589e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.949e0

QD
type: SiteQuality
SIO_000300: 1.477e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e0

FS
type: SiteQuality
SIO_000300: 2.773e0

DP
type: SiteQuality
SIO_000300: 1.666513e6

GenotypeQuality
all individuals: 1758
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10236
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
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GenotypeQuality
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GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 1876
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variant carriers: 0

GenotypeQuality
all individuals: 133
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variant carriers: 0

GenotypeQuality
all individuals: 3429
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
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variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63342
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.09979260705136e-5
allele num: 16394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8974
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.614e0

VQSLOD
type: SiteQuality
SIO_000300: -2.044e-1

DP
type: SiteQuality
SIO_000300: 1.666994e6

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.19e-1

GenotypeQuality
all individuals: 987
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1866
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GenotypeQuality
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GenotypeQuality
all individuals: 297
bin: 2.75e1
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GenotypeQuality
all individuals: 206
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GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 675
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GenotypeQuality
all individuals: 10246
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.156167150612296e-5
allele num: 63368
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8980
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 1.166e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

DP
type: SiteQuality
SIO_000300: 1.669746e6

QD
type: SiteQuality
SIO_000300: 1.294e1

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

GenotypeQuality
all individuals: 935
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1415
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GenotypeQuality
all individuals: 10241
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GenotypeQuality
all individuals: 290
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GenotypeQuality
all individuals: 1863
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GenotypeQuality
all individuals: 34856
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GenotypeQuality
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GenotypeQuality
all individuals: 306
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GenotypeQuality
all individuals: 803
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GenotypeQuality
all individuals: 3420
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9004
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.728728602503074e-5
allele num: 63442
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.215e1

VQSLOD
type: SiteQuality
SIO_000300: 5.45e-1

FS
type: SiteQuality
SIO_000300: 5.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.152e0

DP
type: SiteQuality
SIO_000300: 1.671235e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.274e0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10244
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.150499354147633e-5
allele num: 63482
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.599e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.61e-2

QD
type: SiteQuality
SIO_000300: 9.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
type: SiteQuality
SIO_000300: 1.672979e6

GenotypeQuality
all individuals: 677
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3410
bin: 7.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9026
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.575051189163648e-5
allele num: 63490
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.049e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.81e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.955e0

DP
type: SiteQuality
SIO_000300: 1.673745e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9026
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.575051189163648e-5
allele num: 63490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.955e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 1.673745e6

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.81e-1

QD
type: SiteQuality
SIO_000300: 1.049e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 267
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35080
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9022
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63526
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.109481915933529e-5
allele num: 16368
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.674025e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.168e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 801
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variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3239
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.149209548403351e-5
allele num: 63508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.674664e6

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.014e1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.54e-1

FS
type: SiteQuality
SIO_000300: 3.672e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 1.123e1