5-37167257-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167257
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167257
    reference: chr 5
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3932A>G
  hgvsp: ENSP00000274258.7:p.Gln1311Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7292A>G
  hgvsp: ENSP00000389014.2:p.Gln2431Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4436A>G
  hgvsp: ENSP00000424223.1:p.Gln1479Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4304A>G
  hgvsp: ENSP00000426337.1:p.Gln1435Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7292A>G
  hgvsp: ENSP00000421690.1:p.Gln2431Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.364A>G
  hgvsp: ENSP00000473657.1:p.Gln122Arg
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5733
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln2431Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

5-37167259-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167259
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167259
    reference: chr 5
allele count: 11
allele frequency: 9.079203671299811e-5
allele num: 121156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4434A>G
  hgvsp: ENST00000514429.1:c.4434A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7290A>G
  hgvsp: ENST00000425232.2:c.7290A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7290A>G
  hgvsp: ENST00000508244.1:c.7290A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3930A>G
  hgvsp: ENST00000274258.7:c.3930A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.362A>G
  hgvsp: ENST00000511824.2:c.362A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4302A>G
  hgvsp: ENST00000509849.1:c.4302A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26526
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20358
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5741
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 6030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln2430Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

5-37167274-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167274
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167274
    reference: chr 5
allele count: 43
allele frequency: 3.551312333790324e-4
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.347G>A
  hgvsp: ENST00000511824.2:c.347G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4287G>A
  hgvsp: ENST00000509849.1:c.4287G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7275G>A
  hgvsp: ENST00000425232.2:c.7275G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4419G>A
  hgvsp: ENST00000514429.1:c.4419G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7275G>A
  hgvsp: ENST00000508244.1:c.7275G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3915G>A
  hgvsp: ENST00000274258.7:c.3915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26322
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala2425Ala
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

5-37167275-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167275
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167275
    reference: chr 5
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4286C>T
  hgvsp: ENSP00000426337.1:p.Ala1429Val
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7274C>T
  hgvsp: ENSP00000421690.1:p.Ala2425Val
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7274C>T
  hgvsp: ENSP00000389014.2:p.Ala2425Val
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.346C>T
  hgvsp: ENSP00000473657.1:p.Ala116Val
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4418C>T
  hgvsp: ENSP00000424223.1:p.Ala1473Val
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3914C>T
  hgvsp: ENSP00000274258.7:p.Ala1305Val
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala2425Val
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

5-37167278-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167278
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167278
    reference: chr 5
allele count: 2
allele frequency: 1.652046059044126e-5
allele num: 121062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.343T>C
  hgvsp: ENSP00000473657.1:p.Ile115Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3911T>C
  hgvsp: ENSP00000274258.7:p.Ile1304Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4283T>C
  hgvsp: ENSP00000426337.1:p.Ile1428Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4415T>C
  hgvsp: ENSP00000424223.1:p.Ile1472Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7271T>C
  hgvsp: ENSP00000421690.1:p.Ile2424Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7271T>C
  hgvsp: ENSP00000389014.2:p.Ile2424Thr
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5720
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6021
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile2424Thr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

5-37167282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167282
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167282
    reference: chr 5
allele count: 13
allele frequency: 1.074326892881345e-4
allele num: 121006
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7267C>T
  hgvsp: ENSP00000389014.2:p.Leu2423Phe
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3907C>T
  hgvsp: ENSP00000274258.7:p.Leu1303Phe
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4411C>T
  hgvsp: ENSP00000424223.1:p.Leu1471Phe
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4279C>T
  hgvsp: ENSP00000426337.1:p.Leu1427Phe
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7267C>T
  hgvsp: ENSP00000421690.1:p.Leu2423Phe
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.339C>T
  hgvsp: ENSP00000473657.1:p.Leu114Phe
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26169
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6008
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu2423Phe
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

5-37167295-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167295
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167295
    reference: chr 5
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.326C>A
  hgvsp: ENST00000511824.2:c.326C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7254C>A
  hgvsp: ENST00000425232.2:c.7254C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3894C>A
  hgvsp: ENST00000274258.7:c.3894C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4266C>A
  hgvsp: ENST00000509849.1:c.4266C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4398C>A
  hgvsp: ENST00000514429.1:c.4398C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7254C>A
  hgvsp: ENST00000508244.1:c.7254C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile2418Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

5-37167296-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167296
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167296
    reference: chr 5
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4265T>C
  hgvsp: ENSP00000426337.1:p.Ile1422Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7253T>C
  hgvsp: ENSP00000421690.1:p.Ile2418Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3893T>C
  hgvsp: ENSP00000274258.7:p.Ile1298Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7253T>C
  hgvsp: ENSP00000389014.2:p.Ile2418Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4397T>C
  hgvsp: ENSP00000424223.1:p.Ile1466Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.325T>C
  hgvsp: ENSP00000473657.1:p.Ile109Thr
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5716
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile2418Thr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-37167297-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167297
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167295
    reference: chr 5
allele count: 1
allele frequency: 8.299719469481931e-6
allele num: 120486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7250_7251delTT
  hgvsp: ENSP00000421690.1:p.Leu2417HisfsTer4
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4262_4263delTT
  hgvsp: ENSP00000426337.1:p.Leu1421HisfsTer4
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7250_7251delTT
  hgvsp: ENSP00000389014.2:p.Leu2417HisfsTer4
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3890_3891delTT
  hgvsp: ENSP00000274258.7:p.Leu1297HisfsTer4
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4394_4395delTT
  hgvsp: ENSP00000424223.1:p.Leu1465HisfsTer4
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.322_323delTT
  hgvsp: ENSP00000473657.1:p.Leu108HisfsTer4
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5716
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu2417HisfsTer4
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: TAA
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

5-37167301-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167301
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167301
    reference: chr 5
allele count: 1
allele frequency: 8.323622440486099e-6
allele num: 120140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7248A>G
  hgvsp: ENST00000508244.1:c.7248A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4392A>G
  hgvsp: ENST00000514429.1:c.4392A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4260A>G
  hgvsp: ENST00000509849.1:c.4260A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.320A>G
  hgvsp: ENST00000511824.2:c.320A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7248A>G
  hgvsp: ENST00000425232.2:c.7248A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3888A>G
  hgvsp: ENST00000274258.7:c.3888A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25129
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Gln2416Gln
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

5-37167303-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167303
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167303
    reference: chr 5
allele count: 1
allele frequency: 8.32514693884347e-6
allele num: 120118
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7246C>A
  hgvsp: ENSP00000389014.2:p.Gln2416Lys
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7246C>A
  hgvsp: ENSP00000421690.1:p.Gln2416Lys
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.318C>A
  hgvsp: ENSP00000473657.1:p.Gln107Lys
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4258C>A
  hgvsp: ENSP00000426337.1:p.Gln1420Lys
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4390C>A
  hgvsp: ENSP00000424223.1:p.Gln1464Lys
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3886C>A
  hgvsp: ENSP00000274258.7:p.Gln1296Lys
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln2416Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

5-37167303-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167303
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167303
    reference: chr 5
allele count: 1
allele frequency: 8.32514693884347e-6
allele num: 120118
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7246C>G
  hgvsp: ENSP00000389014.2:p.Gln2416Glu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4258C>G
  hgvsp: ENSP00000426337.1:p.Gln1420Glu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4390C>G
  hgvsp: ENSP00000424223.1:p.Gln1464Glu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3886C>G
  hgvsp: ENSP00000274258.7:p.Gln1296Glu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.318C>G
  hgvsp: ENSP00000473657.1:p.Gln107Glu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7246C>G
  hgvsp: ENSP00000421690.1:p.Gln2416Glu
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5712
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln2416Glu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS

5-37167304-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167304
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167304
    reference: chr 5
allele count: 2
allele frequency: 1.664918502239315e-5
allele num: 120126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.317A>G
  hgvsp: ENST00000511824.2:c.317A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7245A>G
  hgvsp: ENST00000508244.1:c.7245A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3885A>G
  hgvsp: ENST00000274258.7:c.3885A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7245A>G
  hgvsp: ENST00000425232.2:c.7245A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4389A>G
  hgvsp: ENST00000514429.1:c.4389A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4257A>G
  hgvsp: ENST00000509849.1:c.4257A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5712
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr2415Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ

5-37167305-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167305
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167304
    reference: chr 5
allele count: 2
allele frequency: 1.669226146758363e-5
allele num: 119816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3883delA
  hgvsp: ENSP00000274258.7:p.Thr1295HisfsTer19
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4387delA
  hgvsp: ENSP00000424223.1:p.Thr1463HisfsTer19
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.315delA
  hgvsp: ENSP00000473657.1:p.Thr106HisfsTer19
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7243delA
  hgvsp: ENSP00000421690.1:p.Thr2415HisfsTer19
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7243delA
  hgvsp: ENSP00000389014.2:p.Thr2415HisfsTer19
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4255delA
  hgvsp: ENSP00000426337.1:p.Thr1419HisfsTer19
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20222
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5698
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr2415HisfsTer19
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: GT
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

5-37167312-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167312
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167312
    reference: chr 5
allele count: 1
allele frequency: 8.365260745177427e-6
allele num: 119542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4381A>C
  hgvsp: ENSP00000424223.1:p.Lys1461Gln
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7237A>C
  hgvsp: ENSP00000421690.1:p.Lys2413Gln
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4249A>C
  hgvsp: ENSP00000426337.1:p.Lys1417Gln
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3877A>C
  hgvsp: ENSP00000274258.7:p.Lys1293Gln
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7237A>C
  hgvsp: ENSP00000389014.2:p.Lys2413Gln
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.309A>C
  hgvsp: ENSP00000473657.1:p.Lys104Gln
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys2413Gln
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/5-37167318-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167318
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167317
    reference: chr 5
allele count: 1
allele frequency: 8.413684015683106e-6
allele num: 118854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3874-4delG
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4246-4delG
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4378-4delG
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7234-4delG
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.306-4delG
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7234-4delG
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.75e1
  variant carriers: 0
hgvs: c.7234-4delG
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: AC
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/5-37167320-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167320
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167320
    reference: chr 5
allele count: 4
allele frequency: 3.369385760975774e-5
allele num: 118716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3874-5T>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.306-5T>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4246-5T>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4378-5T>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7234-5T>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7234-5T>G
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19875
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5694
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
hgvs: c.7234-5T>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

5-37167322-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167322
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167322
    reference: chr 5
allele count: 119
allele frequency: 1.004711166646967e-3
allele num: 118442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4378-7C>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7234-7C>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7234-7C>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4246-7C>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3874-7C>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.306-7C>G
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22553
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 19648
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5766
  bin: 9.75e1
  variant carriers: 118
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 2.25e1
  variant carriers: 0
hgvs: c.7234-7C>G
num of homozygotes: 1
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

5-37167335-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167335
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167335
    reference: chr 5
allele count: 2
allele frequency: 1.712563364844499e-5
allele num: 116784
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7234-20G>A
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3874-20G>A
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.306-20G>A
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4378-20G>A
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7234-20G>A
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4246-20G>A
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18714
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5656
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

5-37167342-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167342
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167342
    reference: chr 5
allele count: 1
allele frequency: 8.59963537546008e-6
allele num: 116284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4246-27T>A
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7234-27T>A
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3874-27T>A
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7234-27T>A
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4378-27T>A
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.306-27T>A
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14986
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-37167356-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167356
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167355
    reference: chr 5
allele count: 1
allele frequency: 8.749671887304227e-6
allele num: 114290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.306-42delG
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3874-42delG
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4246-42delG
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4378-42delG
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7234-42delG
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7234-42delG
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9297
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: AC
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-37167364-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167364
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167364
    reference: chr 5
allele count: 1
allele frequency: 8.907257633519791e-6
allele num: 112268
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7234-49T>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3874-49T>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.306-49T>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4378-49T>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7234-49T>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4246-49T>G
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15815
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7399
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 6600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5908
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP

5-37167365-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37167365
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37167365
    reference: chr 5
allele count: 1
allele frequency: 8.950628334109055e-6
allele num: 111724
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7234-50A>C
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4246-50A>C
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7234-50A>C
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.306-50A>C
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4378-50A>C
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3874-50A>C
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15795
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6027
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3548
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7381
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5649
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

5-37168863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37168863
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37168863
    reference: chr 5
allele count: 9
allele frequency: 8.01638906208248e-5
allele num: 112270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4377+30G>A
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3873+30G>A
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7233+30G>A
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4245+30G>A
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7233+30G>A
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.305+30G>A
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26662
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

5-37168871-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37168871
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37168871
    reference: chr 5
allele count: 1
allele frequency: 8.864148066729306e-6
allele num: 112814
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7233+22A>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4245+22A>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.305+22A>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3873+22A>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7233+22A>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4377+22A>G
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-37168886-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37168886
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37168886
    reference: chr 5
allele count: 1
allele frequency: 8.716571946584848e-6
allele num: 114724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4377+7A>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7233+7A>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4245+7A>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.305+7A>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3873+7A>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7233+7A>G
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6613
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
hgvs: c.7233+7A>G
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

5-37168890-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37168890
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37168890
    reference: chr 5
allele count: 1
allele frequency: 8.670770831526923e-6
allele num: 115330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7233+3A>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4245+3A>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7233+3A>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3873+3A>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.305+3A>G
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4377+3A>G
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 8.25e1
  variant carriers: 0
hgvs: c.7233+3A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

5-37168904-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37168904
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37168904
    reference: chr 5
allele count: 1
allele frequency: 8.438818565400844e-6
allele num: 118500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3862C>G
  hgvsp: ENSP00000274258.7:p.Pro1288Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7222C>G
  hgvsp: ENSP00000389014.2:p.Pro2408Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4366C>G
  hgvsp: ENSP00000424223.1:p.Pro1456Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4234C>G
  hgvsp: ENSP00000426337.1:p.Pro1412Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7222C>G
  hgvsp: ENSP00000421690.1:p.Pro2408Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.294C>G
  hgvsp: ENSP00000473657.1:p.Pro99Ala
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3974
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro2408Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

5-37168906-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37168906
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37168906
    reference: chr 5
allele count: 1
allele frequency: 8.415808254224735e-6
allele num: 118824
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7220C>A
  hgvsp: ENSP00000389014.2:p.Ser2407Tyr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4232C>A
  hgvsp: ENSP00000426337.1:p.Ser1411Tyr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7220C>A
  hgvsp: ENSP00000421690.1:p.Ser2407Tyr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4364C>A
  hgvsp: ENSP00000424223.1:p.Ser1455Tyr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3860C>A
  hgvsp: ENSP00000274258.7:p.Ser1287Tyr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.292C>A
  hgvsp: ENSP00000473657.1:p.Ser98Tyr
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6613
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser2407Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

5-37168912-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37168912
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37168912
    reference: chr 5
allele count: 10
allele frequency: 8.352683717278361e-5
allele num: 119722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7214A>G
  hgvsp: ENSP00000421690.1:p.His2405Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4358A>G
  hgvsp: ENSP00000424223.1:p.His1453Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4226A>G
  hgvsp: ENSP00000426337.1:p.His1409Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.286A>G
  hgvsp: ENSP00000473657.1:p.His96Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3854A>G
  hgvsp: ENSP00000274258.7:p.His1285Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7214A>G
  hgvsp: ENSP00000389014.2:p.His2405Arg
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9601
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15385
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20139
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His2405Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-37168915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37168915
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37168915
    reference: chr 5
allele count: 1
allele frequency: 8.334444592612349e-6
allele num: 119984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.283C>T
  hgvsp: ENSP00000473657.1:p.Ser95Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7211C>T
  hgvsp: ENSP00000421690.1:p.Ser2404Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4355C>T
  hgvsp: ENSP00000424223.1:p.Ser1452Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3851C>T
  hgvsp: ENSP00000274258.7:p.Ser1284Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4223C>T
  hgvsp: ENSP00000426337.1:p.Ser1408Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7211C>T
  hgvsp: ENSP00000389014.2:p.Ser2404Leu
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6612
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31031
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser2404Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

5-37168931-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37168931
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37168931
    reference: chr 5
allele count: 4
allele frequency: 3.307862789851477e-5
allele num: 120924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.267T>C
  hgvsp: ENST00000511824.2:c.267T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7195T>C
  hgvsp: ENST00000508244.1:c.7195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4339T>C
  hgvsp: ENST00000514429.1:c.4339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7195T>C
  hgvsp: ENST00000425232.2:c.7195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4207T>C
  hgvsp: ENST00000509849.1:c.4207T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3835T>C
  hgvsp: ENST00000274258.7:c.3835T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6611
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Leu2399Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

5-37168942-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37168942
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37168942
    reference: chr 5
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4328A>G
  hgvsp: ENSP00000424223.1:p.Lys1443Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7184A>G
  hgvsp: ENSP00000389014.2:p.Lys2395Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4196A>G
  hgvsp: ENSP00000426337.1:p.Lys1399Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3824A>G
  hgvsp: ENSP00000274258.7:p.Lys1275Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.256A>G
  hgvsp: ENSP00000473657.1:p.Lys86Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7184A>G
  hgvsp: ENSP00000421690.1:p.Lys2395Arg
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20639
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys2395Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-37168972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37168972
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37168972
    reference: chr 5
allele count: 6
allele frequency: 4.943153732081068e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3794C>T
  hgvsp: ENSP00000274258.7:p.Thr1265Ile
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7154C>T
  hgvsp: ENSP00000389014.2:p.Thr2385Ile
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4166C>T
  hgvsp: ENSP00000426337.1:p.Thr1389Ile
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.226C>T
  hgvsp: ENSP00000473657.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4298C>T
  hgvsp: ENSP00000424223.1:p.Thr1433Ile
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7154C>T
  hgvsp: ENSP00000421690.1:p.Thr2385Ile
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6608
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 9329
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr2385Ile
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

5-37168973-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37168973
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37168973
    reference: chr 5
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3793A>G
  hgvsp: ENSP00000274258.7:p.Thr1265Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4165A>G
  hgvsp: ENSP00000426337.1:p.Thr1389Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7153A>G
  hgvsp: ENSP00000421690.1:p.Thr2385Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7153A>G
  hgvsp: ENSP00000389014.2:p.Thr2385Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.225A>G
  hgvsp: ENSP00000473657.1:p.Thr76Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4297A>G
  hgvsp: ENSP00000424223.1:p.Thr1433Ala
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6602
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr2385Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

5-37168978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37168978
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37168978
    reference: chr 5
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3788C>T
  hgvsp: ENSP00000274258.7:p.Pro1263Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4160C>T
  hgvsp: ENSP00000426337.1:p.Pro1387Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7148C>T
  hgvsp: ENSP00000389014.2:p.Pro2383Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.220C>T
  hgvsp: ENSP00000473657.1:p.Pro74Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4292C>T
  hgvsp: ENSP00000424223.1:p.Pro1431Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7148C>T
  hgvsp: ENSP00000421690.1:p.Pro2383Leu
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro2383Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

5-37168984-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37168984
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37168984
    reference: chr 5
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3782C>G
  hgvsp: ENSP00000274258.7:p.Thr1261Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4286C>G
  hgvsp: ENSP00000424223.1:p.Thr1429Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7142C>G
  hgvsp: ENSP00000421690.1:p.Thr2381Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4154C>G
  hgvsp: ENSP00000426337.1:p.Thr1385Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.214C>G
  hgvsp: ENSP00000473657.1:p.Thr72Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7142C>G
  hgvsp: ENSP00000389014.2:p.Thr2381Arg
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6603
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  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: 1.25e1
  variant carriers: 0
hgvs: p.Thr2381Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

5-37168992-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37168992
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37168992
    reference: chr 5
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7134A>T
  hgvsp: ENST00000508244.1:c.7134A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4146A>T
  hgvsp: ENST00000509849.1:c.4146A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7134A>T
  hgvsp: ENST00000425232.2:c.7134A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3774A>T
  hgvsp: ENST00000274258.7:c.3774A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4278A>T
  hgvsp: ENST00000514429.1:c.4278A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.206A>T
  hgvsp: ENST00000511824.2:c.206A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala2378Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

5-37168994-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37168994
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37168994
    reference: chr 5
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4276G>A
  hgvsp: ENSP00000424223.1:p.Ala1426Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3772G>A
  hgvsp: ENSP00000274258.7:p.Ala1258Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4144G>A
  hgvsp: ENSP00000426337.1:p.Ala1382Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7132G>A
  hgvsp: ENSP00000389014.2:p.Ala2378Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7132G>A
  hgvsp: ENSP00000421690.1:p.Ala2378Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.204G>A
  hgvsp: ENSP00000473657.1:p.Ala69Thr
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  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: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6600
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9337
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala2378Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

5-37169003-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169003
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169003
    reference: chr 5
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4267A>G
  hgvsp: ENSP00000424223.1:p.Thr1423Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3763A>G
  hgvsp: ENSP00000274258.7:p.Thr1255Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4135A>G
  hgvsp: ENSP00000426337.1:p.Thr1379Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7123A>G
  hgvsp: ENSP00000389014.2:p.Thr2375Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.195A>G
  hgvsp: ENSP00000473657.1:p.Thr66Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7123A>G
  hgvsp: ENSP00000421690.1:p.Thr2375Ala
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr2375Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

5-37169014-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169014
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169014
    reference: chr 5
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.184T>C
  hgvsp: ENSP00000473657.1:p.Met62Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3752T>C
  hgvsp: ENSP00000274258.7:p.Met1251Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4124T>C
  hgvsp: ENSP00000426337.1:p.Met1375Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4256T>C
  hgvsp: ENSP00000424223.1:p.Met1419Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7112T>C
  hgvsp: ENSP00000421690.1:p.Met2371Thr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7112T>C
  hgvsp: ENSP00000389014.2:p.Met2371Thr
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9335
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6597
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met2371Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS

5-37169018-TAGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169018
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169015
    reference: chr 5
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4117_4119delCCT
  hgvsp: ENSP00000426337.1:p.Pro1373del
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3745_3747delCCT
  hgvsp: ENSP00000274258.7:p.Pro1249del
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7105_7107delCCT
  hgvsp: ENSP00000389014.2:p.Pro2369del
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7105_7107delCCT
  hgvsp: ENSP00000421690.1:p.Pro2369del
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.177_179delCCT
  hgvsp: ENSP00000473657.1:p.Pro60del
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4249_4251delCCT
  hgvsp: ENSP00000424223.1:p.Pro1417del
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15506
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro2369del
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: TAGG
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

5-37169020-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169020
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169020
    reference: chr 5
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7106C>G
  hgvsp: ENSP00000389014.2:p.Pro2369Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4250C>G
  hgvsp: ENSP00000424223.1:p.Pro1417Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.178C>G
  hgvsp: ENSP00000473657.1:p.Pro60Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3746C>G
  hgvsp: ENSP00000274258.7:p.Pro1249Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4118C>G
  hgvsp: ENSP00000426337.1:p.Pro1373Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7106C>G
  hgvsp: ENSP00000421690.1:p.Pro2369Arg
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32230
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro2369Arg
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum

5-37169027-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169027
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169027
    reference: chr 5
allele count: 25
allele frequency: 2.059240222727423e-4
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4243A>G
  hgvsp: ENSP00000424223.1:p.Lys1415Glu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7099A>G
  hgvsp: ENSP00000389014.2:p.Lys2367Glu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.171A>G
  hgvsp: ENSP00000473657.1:p.Lys58Glu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7099A>G
  hgvsp: ENSP00000421690.1:p.Lys2367Glu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4111A>G
  hgvsp: ENSP00000426337.1:p.Lys1371Glu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3739A>G
  hgvsp: ENSP00000274258.7:p.Lys1247Glu
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys2367Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS

5-37169038-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169038
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169038
    reference: chr 5
allele count: 269
allele frequency: 2.241106390069149e-3
allele num: 120030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7088A>C
  hgvsp: ENSP00000421690.1:p.Tyr2363Ser
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3728A>C
  hgvsp: ENSP00000274258.7:p.Tyr1243Ser
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7088A>C
  hgvsp: ENSP00000389014.2:p.Tyr2363Ser
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.160A>C
  hgvsp: ENSP00000473657.1:p.Tyr54Ser
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4232A>C
  hgvsp: ENSP00000424223.1:p.Tyr1411Ser
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4100A>C
  hgvsp: ENSP00000426337.1:p.Tyr1367Ser
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 9.75e1
  variant carriers: 268
genotype depth: GenotypeDepth
  all individuals: 10110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 32061
  bin: 6.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 11
hgvs: p.Tyr2363Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

5-37169046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169046
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169046
    reference: chr 5
allele count: 3
allele frequency: 2.471495419495156e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7080G>A
  hgvsp: ENST00000508244.1:c.7080G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7080G>A
  hgvsp: ENST00000425232.2:c.7080G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4092G>A
  hgvsp: ENST00000509849.1:c.4092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.152G>A
  hgvsp: ENST00000511824.2:c.152G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3720G>A
  hgvsp: ENST00000274258.7:c.3720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4224G>A
  hgvsp: ENST00000514429.1:c.4224G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4050
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro2360Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

5-37169047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169047
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169047
    reference: chr 5
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3719C>T
  hgvsp: ENSP00000274258.7:p.Pro1240Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4223C>T
  hgvsp: ENSP00000424223.1:p.Pro1408Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7079C>T
  hgvsp: ENSP00000421690.1:p.Pro2360Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4091C>T
  hgvsp: ENSP00000426337.1:p.Pro1364Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7079C>T
  hgvsp: ENSP00000389014.2:p.Pro2360Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.151C>T
  hgvsp: ENSP00000473657.1:p.Pro51Leu
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6055
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro2360Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/5-37169050-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169050
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169050
    reference: chr 5
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4220T>G
  hgvsp: ENSP00000424223.1:p.Leu1407Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7076T>G
  hgvsp: ENSP00000389014.2:p.Leu2359Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3716T>G
  hgvsp: ENSP00000274258.7:p.Leu1239Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7076T>G
  hgvsp: ENSP00000421690.1:p.Leu2359Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4088T>G
  hgvsp: ENSP00000426337.1:p.Leu1363Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.148T>G
  hgvsp: ENSP00000473657.1:p.Leu50Arg
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu2359Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-37169064-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169064
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169064
    reference: chr 5
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3702C>G
  hgvsp: ENSP00000274258.7:p.His1234Gln
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4074C>G
  hgvsp: ENSP00000426337.1:p.His1358Gln
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.134C>G
  hgvsp: ENSP00000473657.1:p.His45Gln
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4206C>G
  hgvsp: ENSP00000424223.1:p.His1402Gln
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7062C>G
  hgvsp: ENSP00000389014.2:p.His2354Gln
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7062C>G
  hgvsp: ENSP00000421690.1:p.His2354Gln
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  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: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His2354Gln
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

5-37169072-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169072
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169072
    reference: chr 5
allele count: 8
allele frequency: 6.589568712727751e-5
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4198T>C
  hgvsp: ENSP00000424223.1:p.Ser1400Pro
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7054T>C
  hgvsp: ENSP00000421690.1:p.Ser2352Pro
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4066T>C
  hgvsp: ENSP00000426337.1:p.Ser1356Pro
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7054T>C
  hgvsp: ENSP00000389014.2:p.Ser2352Pro
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.126T>C
  hgvsp: ENSP00000473657.1:p.Ser43Pro
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3694T>C
  hgvsp: ENSP00000274258.7:p.Ser1232Pro
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 15696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6054
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser2352Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

5-37169073-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169073
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169073
    reference: chr 5
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3693A>G
  hgvsp: ENSP00000274258.7:p.Ile1231Met
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.125A>G
  hgvsp: ENSP00000473657.1:p.Ile42Met
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4197A>G
  hgvsp: ENSP00000424223.1:p.Ile1399Met
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4065A>G
  hgvsp: ENSP00000426337.1:p.Ile1355Met
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7053A>G
  hgvsp: ENSP00000421690.1:p.Ile2351Met
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7053A>G
  hgvsp: ENSP00000389014.2:p.Ile2351Met
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9450
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile2351Met
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

5-37169085-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169085
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169085
    reference: chr 5
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.113G>A
  hgvsp: ENST00000511824.2:c.113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7041G>A
  hgvsp: ENST00000425232.2:c.7041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7041G>A
  hgvsp: ENST00000508244.1:c.7041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4053G>A
  hgvsp: ENST00000509849.1:c.4053G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3681G>A
  hgvsp: ENST00000274258.7:c.3681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4185G>A
  hgvsp: ENST00000514429.1:c.4185G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly2347Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

5-37169091-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169091
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169091
    reference: chr 5
allele count: 3
allele frequency: 2.471495419495156e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4047G>A
  hgvsp: ENST00000509849.1:c.4047G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.107G>A
  hgvsp: ENST00000511824.2:c.107G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4179G>A
  hgvsp: ENST00000514429.1:c.4179G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3675G>A
  hgvsp: ENST00000274258.7:c.3675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7035G>A
  hgvsp: ENST00000425232.2:c.7035G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7035G>A
  hgvsp: ENST00000508244.1:c.7035G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys2345Lys
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-37169105-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169105
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169105
    reference: chr 5
allele count: 6
allele frequency: 4.943072284193702e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4165C>T
  hgvsp: ENST00000514429.1:c.4165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7021C>T
  hgvsp: ENST00000508244.1:c.7021C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.93C>T
  hgvsp: ENST00000511824.2:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3661C>T
  hgvsp: ENST00000274258.7:c.3661C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4033C>T
  hgvsp: ENST00000509849.1:c.4033C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7021C>T
  hgvsp: ENST00000425232.2:c.7021C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu2341Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

5-37169106-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169106
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169106
    reference: chr 5
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3660A>T
  hgvsp: ENSP00000274258.7:p.Lys1220Asn
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.92A>T
  hgvsp: ENSP00000473657.1:p.Lys31Asn
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4032A>T
  hgvsp: ENSP00000426337.1:p.Lys1344Asn
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7020A>T
  hgvsp: ENSP00000389014.2:p.Lys2340Asn
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4164A>T
  hgvsp: ENSP00000424223.1:p.Lys1388Asn
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7020A>T
  hgvsp: ENSP00000421690.1:p.Lys2340Asn
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15723
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys2340Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

5-37169112-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169112
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169112
    reference: chr 5
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3654A>C
  hgvsp: ENST00000274258.7:c.3654A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4026A>C
  hgvsp: ENST00000509849.1:c.4026A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7014A>C
  hgvsp: ENST00000508244.1:c.7014A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4158A>C
  hgvsp: ENST00000514429.1:c.4158A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7014A>C
  hgvsp: ENST00000425232.2:c.7014A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.86A>C
  hgvsp: ENST00000511824.2:c.86A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6043
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro2338Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

5-37169114-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169114
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169114
    reference: chr 5
allele count: 7
allele frequency: 5.766347595433053e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3652C>G
  hgvsp: ENSP00000274258.7:p.Pro1218Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4024C>G
  hgvsp: ENSP00000426337.1:p.Pro1342Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7012C>G
  hgvsp: ENSP00000389014.2:p.Pro2338Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4156C>G
  hgvsp: ENSP00000424223.1:p.Pro1386Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7012C>G
  hgvsp: ENSP00000421690.1:p.Pro2338Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.84C>G
  hgvsp: ENSP00000473657.1:p.Pro29Ala
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32331
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro2338Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

5-37169121-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169121
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169121
    reference: chr 5
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4149T>C
  hgvsp: ENST00000514429.1:c.4149T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7005T>C
  hgvsp: ENST00000425232.2:c.7005T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3645T>C
  hgvsp: ENST00000274258.7:c.3645T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4017T>C
  hgvsp: ENST00000509849.1:c.4017T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7005T>C
  hgvsp: ENST00000508244.1:c.7005T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.77T>C
  hgvsp: ENST00000511824.2:c.77T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15742
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe2335Phe
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD

5-37169124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169124
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169124
    reference: chr 5
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.7002G>A
  hgvsp: ENST00000508244.1:c.7002G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3642G>A
  hgvsp: ENST00000274258.7:c.3642G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4146G>A
  hgvsp: ENST00000514429.1:c.4146G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4014G>A
  hgvsp: ENST00000509849.1:c.4014G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.74G>A
  hgvsp: ENST00000511824.2:c.74G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.7002G>A
  hgvsp: ENST00000425232.2:c.7002G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val2334Val
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/5-37169130-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169130
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169130
    reference: chr 5
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3636T>G
  hgvsp: ENST00000274258.7:c.3636T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.6996T>G
  hgvsp: ENST00000425232.2:c.6996T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4008T>G
  hgvsp: ENST00000509849.1:c.4008T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.68T>G
  hgvsp: ENST00000511824.2:c.68T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.6996T>G
  hgvsp: ENST00000508244.1:c.6996T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4140T>G
  hgvsp: ENST00000514429.1:c.4140T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6037
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser2332Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/5-37169135-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169135
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169135
    reference: chr 5
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.4003G>T
  hgvsp: ENSP00000426337.1:p.Asp1335Tyr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3631G>T
  hgvsp: ENSP00000274258.7:p.Asp1211Tyr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.63G>T
  hgvsp: ENSP00000473657.1:p.Asp22Tyr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.6991G>T
  hgvsp: ENSP00000389014.2:p.Asp2331Tyr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.6991G>T
  hgvsp: ENSP00000421690.1:p.Asp2331Tyr
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4135G>T
  hgvsp: ENSP00000424223.1:p.Asp1379Tyr
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6035
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp2331Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-37169139-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169139
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169139
    reference: chr 5
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.3999A>G
  hgvsp: ENST00000509849.1:c.3999A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.6987A>G
  hgvsp: ENST00000425232.2:c.6987A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.6987A>G
  hgvsp: ENST00000508244.1:c.6987A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3627A>G
  hgvsp: ENST00000274258.7:c.3627A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4131A>G
  hgvsp: ENST00000514429.1:c.4131A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.59A>G
  hgvsp: ENST00000511824.2:c.59A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6034
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln2329Gln
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

5-37169144-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169144
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169144
    reference: chr 5
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3622C>T
  hgvsp: ENSP00000274258.7:p.Pro1208Ser
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.6982C>T
  hgvsp: ENSP00000421690.1:p.Pro2328Ser
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4126C>T
  hgvsp: ENSP00000424223.1:p.Pro1376Ser
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.6982C>T
  hgvsp: ENSP00000389014.2:p.Pro2328Ser
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.3994C>T
  hgvsp: ENSP00000426337.1:p.Pro1332Ser
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.54C>T
  hgvsp: ENSP00000473657.1:p.Pro19Ser
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro2328Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-37169144-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169144
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169144
    reference: chr 5
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.6982C>G
  hgvsp: ENSP00000421690.1:p.Pro2328Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3622C>G
  hgvsp: ENSP00000274258.7:p.Pro1208Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.3994C>G
  hgvsp: ENSP00000426337.1:p.Pro1332Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4126C>G
  hgvsp: ENSP00000424223.1:p.Pro1376Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.6982C>G
  hgvsp: ENSP00000389014.2:p.Pro2328Ala
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.54C>G
  hgvsp: ENSP00000473657.1:p.Pro19Ala
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro2328Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/5-37169150-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169150
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169150
    reference: chr 5
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.6976T>G
  hgvsp: ENSP00000389014.2:p.Leu2326Val
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.48T>G
  hgvsp: ENSP00000473657.1:p.Leu17Val
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3616T>G
  hgvsp: ENSP00000274258.7:p.Leu1206Val
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.6976T>G
  hgvsp: ENSP00000421690.1:p.Leu2326Val
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.3988T>G
  hgvsp: ENSP00000426337.1:p.Leu1330Val
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4120T>G
  hgvsp: ENSP00000424223.1:p.Leu1374Val
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4050
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu2326Val
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

5-37169150-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169150
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169150
    reference: chr 5
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.6976T>C
  hgvsp: ENST00000425232.2:c.6976T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.48T>C
  hgvsp: ENST00000511824.2:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3616T>C
  hgvsp: ENST00000274258.7:c.3616T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.3988T>C
  hgvsp: ENST00000509849.1:c.3988T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.6976T>C
  hgvsp: ENST00000508244.1:c.6976T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4120T>C
  hgvsp: ENST00000514429.1:c.4120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4050
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6031
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu2326Leu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

5-37169158-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169158
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169158
    reference: chr 5
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.3980A>G
  hgvsp: ENSP00000426337.1:p.Gln1327Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3608A>G
  hgvsp: ENSP00000274258.7:p.Gln1203Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.40A>G
  hgvsp: ENSP00000473657.1:p.Gln14Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.6968A>G
  hgvsp: ENSP00000389014.2:p.Gln2323Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.6968A>G
  hgvsp: ENSP00000421690.1:p.Gln2323Arg
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4112A>G
  hgvsp: ENSP00000424223.1:p.Gln1371Arg
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6029
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln2323Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

5-37169159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169159
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169159
    reference: chr 5
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.39C>T
  hgvsp: ENSP00000473657.1:p.Gln14Ter
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.6967C>T
  hgvsp: ENSP00000389014.2:p.Gln2323Ter
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4111C>T
  hgvsp: ENSP00000424223.1:p.Gln1371Ter
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3607C>T
  hgvsp: ENSP00000274258.7:p.Gln1203Ter
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.6967C>T
  hgvsp: ENSP00000421690.1:p.Gln2323Ter
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.3979C>T
  hgvsp: ENSP00000426337.1:p.Gln1327Ter
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln2323Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

5-37169169-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169169
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169169
    reference: chr 5
allele count: 859
allele frequency: 7.075549405291424e-3
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.3969A>G
  hgvsp: ENST00000509849.1:c.3969A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4101A>G
  hgvsp: ENST00000514429.1:c.4101A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.6957A>G
  hgvsp: ENST00000425232.2:c.6957A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.6957A>G
  hgvsp: ENST00000508244.1:c.6957A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.29A>G
  hgvsp: ENST00000511824.2:c.29A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3597A>G
  hgvsp: ENST00000274258.7:c.3597A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15649
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 9747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 21116
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 9.75e1
  variant carriers: 664
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln2319Gln
num of homozygotes: 5
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum

5-37169170-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169170
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169170
    reference: chr 5
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3596A>T
  hgvsp: ENSP00000274258.7:p.Gln1199Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.6956A>T
  hgvsp: ENSP00000389014.2:p.Gln2319Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.3968A>T
  hgvsp: ENSP00000426337.1:p.Gln1323Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.28A>T
  hgvsp: ENSP00000473657.1:p.Gln10Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.6956A>T
  hgvsp: ENSP00000421690.1:p.Gln2319Leu
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4100A>T
  hgvsp: ENSP00000424223.1:p.Gln1367Leu
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5629
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32819
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9544
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln2319Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS

5-37169171-G-GCAGAAGAAAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169171
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169182
    reference: chr 5
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: GCAGAAGAAAGA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.26_27insTCTTTCTTCTG
  hgvsp: ENSP00000473657.1:p.Gln10SerfsTer12
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsp: ENSP00000389014.2:p.Gln2319SerfsTer12
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsp: ENSP00000426337.1:p.Gln1323SerfsTer12
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsp: ENSP00000424223.1:p.Gln1367SerfsTer12
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsp: ENSP00000421690.1:p.Gln2319SerfsTer12
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsp: ENSP00000274258.7:p.Gln1199SerfsTer12
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5636
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln2319SerfsTer12
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

5-37169189-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169189
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169189
    reference: chr 5
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4081A>G
  hgvsp: ENSP00000424223.1:p.Asn1361Asp
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.3949A>G
  hgvsp: ENSP00000426337.1:p.Asn1317Asp
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.6937A>G
  hgvsp: ENSP00000421690.1:p.Asn2313Asp
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3577A>G
  hgvsp: ENSP00000274258.7:p.Asn1193Asp
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000473657
  ensembl transcript: ENST00000511824
  gene symbol: C5orf42
  hgvsc: ENST00000511824.2:c.9A>G
  hgvsp: ENSP00000473657.1:p.Asn4Asp
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.6937A>G
  hgvsp: ENSP00000389014.2:p.Asn2313Asp
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21448
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32834
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 7.75e1
  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: 1506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9549
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn2313Asp
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

5-37169216-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37169216
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 37169216
    reference: chr 5
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000426337
  ensembl transcript: ENST00000509849
  gene symbol: C5orf42
  hgvsc: ENST00000509849.1:c.3922G>C
  hgvsp: ENSP00000426337.1:p.Ala1308Pro
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000389014
  ensembl transcript: ENST00000425232
  gene symbol: C5orf42
  hgvsc: ENST00000425232.2:c.6910G>C
  hgvsp: ENSP00000389014.2:p.Ala2304Pro
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000421690
  ensembl transcript: ENST00000508244
  gene symbol: C5orf42
  hgvsc: ENST00000508244.1:c.6910G>C
  hgvsp: ENSP00000421690.1:p.Ala2304Pro
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000274258
  ensembl transcript: ENST00000274258
  gene symbol: C5orf42
  hgvsc: ENST00000274258.7:c.3550G>C
  hgvsp: ENSP00000274258.7:p.Ala1184Pro
  variant of: http://identifiers.org/hgnc/25801
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197603
  ensembl protein: ENSP00000424223
  ensembl transcript: ENST00000514429
  gene symbol: C5orf42
  hgvsc: ENST00000514429.1:c.4054G>C
  hgvsp: ENSP00000424223.1:p.Ala1352Pro
  variant of: http://identifiers.org/hgnc/25801
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala2304Pro
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 42648
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 1.144e0

VQSLOD
type: SiteQuality
SIO_000300: -6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.19e-1

DP
type: SiteQuality
SIO_000300: 1.850261e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.478e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.17e0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1780
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42706
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.671518680252305e-4
allele num: 16488
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

DP
type: SiteQuality
SIO_000300: 1.85056e6

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

FS
type: SiteQuality
SIO_000300: 1.952e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 42592
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5761
bin: 9.75e1
variant carriers: 43

GenotypeQuality
all individuals: 6022
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213444970270598e-4
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 40
allele frequency: 6.010337780983291e-4
allele num: 66552
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.851011e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

FS
type: SiteQuality
SIO_000300: 5.43e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 42598
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5720
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6026
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 8.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.117e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.359e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 8.226000000000001e0

DP
type: SiteQuality
SIO_000300: 1.849714e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

GenotypeQuality
all individuals: 1593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.92789666473877e-4
allele num: 10374
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.14e0

FS
type: SiteQuality
SIO_000300: 3.83e0

DP
type: SiteQuality
SIO_000300: 1.848912e6

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.284e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.96e-1

GenotypeQuality
all individuals: 356
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5726
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.477857639693948e-4
allele num: 8626
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.066488716330988e-4
allele num: 16484
num of homozygotes: 1

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

MQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

FS
type: SiteQuality
SIO_000300: 2.024e0

DP
type: SiteQuality
SIO_000300: 1.848385e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

QD
type: SiteQuality
SIO_000300: 1.388e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-1

GenotypeQuality
all individuals: 166
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5714
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 468
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5924
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.671179883945841e-5
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66262
num of homozygotes: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 2.565e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

DP
type: SiteQuality
SIO_000300: 1.841089e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.606999999999999e0

QD
type: SiteQuality
SIO_000300: 1.382e1

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5934
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509069507741527e-5
allele num: 66266
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.86e1

VQSLOD
type: SiteQuality
SIO_000300: -2.224e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

DP
type: SiteQuality
SIO_000300: 1.840835e6

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.875e0

QD
type: SiteQuality
SIO_000300: 1.556e1

FS
type: SiteQuality
SIO_000300: 9.093999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

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

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5919
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66204
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.423e1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.839267e6

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-1

FS
type: SiteQuality
SIO_000300: 1.142e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.045e1

GenotypeQuality
all individuals: 5713
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1140
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1742
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-5
allele num: 66000
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

MQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQ
type: SiteQuality
SIO_000300: 5.692e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.517e0

QD
type: SiteQuality
SIO_000300: 1.338e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.0795e1

DP
type: SiteQuality
SIO_000300: 1.833155e6

GenotypeQuality
all individuals: 239
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5712
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5810
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515564851019975e-5
allele num: 65982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.197e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.515e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 6.235e0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.833121e6

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1740
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41099
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515564851019975e-5
allele num: 65982
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.833121e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.515e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.197e1

VQSLOD
type: SiteQuality
SIO_000300: -1.4e-2

FS
type: SiteQuality
SIO_000300: 6.235e0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41271
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.228048630725777e-4
allele num: 16286
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.976e0

QD
type: SiteQuality
SIO_000300: 1.059e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

DP
type: SiteQuality
SIO_000300: 1.832936e6

FS
type: SiteQuality
SIO_000300: 2.536e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 456
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40537
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5620
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.038590094196293e-5
allele num: 65820
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.632999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.202e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

DP
type: SiteQuality
SIO_000300: 1.839047e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.26e-1

QD
type: SiteQuality
SIO_000300: 2.96e0

GenotypeQuality
all individuals: 40461
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5695
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5654
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65674
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.201935003721161e-5
allele num: 16124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.171e0

QD
type: SiteQuality
SIO_000300: 1.305e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

DP
type: SiteQuality
SIO_000300: 1.818614e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
all individuals: 396
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5695
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 340
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531721961829489e-5
allele num: 65286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15968
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.137e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.215e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.372e0

DP
type: SiteQuality
SIO_000300: 1.798582e6

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39014
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.90015600624025e-4
allele num: 10256
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15926
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.028e1

FS
type: SiteQuality
SIO_000300: 2.764e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

DP
type: SiteQuality
SIO_000300: 1.794542e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5348
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38314
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1340
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
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: 107
allele frequency: 1.044309974624244e-2
allele num: 10246
num of homozygotes: 1

Latino
type: Population
allele count: 11
allele frequency: 9.695046712497797e-4
allele num: 11346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.305170239596469e-5
allele num: 15860
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

DP
type: SiteQuality
SIO_000300: 1.787145e6

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

FS
type: SiteQuality
SIO_000300: 7.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

QD
type: SiteQuality
SIO_000300: 1.497e1

GenotypeQuality
all individuals: 6024
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32174
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64182
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.381519409383186e-4
allele num: 8398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15448
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.415e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.168e0

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

QD
type: SiteQuality
SIO_000300: 1.067e1

MQRankSum
type: SiteQuality
SIO_000300: 6.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.702549e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.75e-1

GenotypeQuality
all individuals: 429
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26978
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5654
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1146
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564749327157789e-5
allele num: 63908
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.656e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 1.63858e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

VQSLOD
type: SiteQuality
SIO_000300: -1.597e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

GenotypeQuality
all individuals: 13504
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7008
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3711
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6811
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5652
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.591393742639804e-5
allele num: 62838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.513738e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.107e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

GenotypeQuality
all individuals: 3627
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7193
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3541
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5649
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 446
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3755
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61710
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.239157372986369e-4
allele num: 8070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14428
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.817e0

VQSLOD
type: SiteQuality
SIO_000300: -2.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

QD
type: SiteQuality
SIO_000300: 2.013e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.482668e6

GenotypeQuality
all individuals: 1588
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7174
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6506
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.627869119322807e-5
allele num: 61430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.222e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

DP
type: SiteQuality
SIO_000300: 1.481096e6

VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

GenotypeQuality
all individuals: 544
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3125
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6619
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3378
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10432
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.356159609688099e-4
allele num: 11478
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.200589055960317e-5
allele num: 64510
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.868093e6

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.566e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.164e1

GenotypeQuality
all individuals: 8890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26920
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6612
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10774
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64628
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.010713563776026e-4
allele num: 9894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.873233e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 2.551e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

QD
type: SiteQuality
SIO_000300: 1.487e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.803e0

GenotypeQuality
all individuals: 2673
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3946
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8939
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27926
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12030
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: 8618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
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: 1.537657225451303e-5
allele num: 65034
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.647e0

FS
type: SiteQuality
SIO_000300: 5.847e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.8899e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.319e-1

QD
type: SiteQuality
SIO_000300: 1.362e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3947
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3132
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6613
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534401276621862e-5
allele num: 65172
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12426
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.86e-1

FS
type: SiteQuality
SIO_000300: 9.98e-1

QD
type: SiteQuality
SIO_000300: 1.456e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

MQRankSum
type: SiteQuality
SIO_000300: -1.151e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.895608e6

VQSLOD
type: SiteQuality
SIO_000300: 2.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

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

GenotypeQuality
all individuals: 228
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6613
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9074
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30119
bin: 6.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516990291262136e-5
allele num: 65920
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.743e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

DP
type: SiteQuality
SIO_000300: 1.925422e6

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 7.19e-1

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
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variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3980
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9100
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30247
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66006
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14832
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

VQSLOD
type: SiteQuality
SIO_000300: -7.457e-1

FS
type: SiteQuality
SIO_000300: 6.74e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

DP
type: SiteQuality
SIO_000300: 1.928086e6

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.691e0

GenotypeQuality
all individuals: 6621
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1506
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3988
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

South Asian
type: Population
allele count: 10
allele frequency: 6.463288521199586e-4
allele num: 15472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66218
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.74e-1

DP
type: SiteQuality
SIO_000300: 1.937072e6

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

QD
type: SiteQuality
SIO_000300: 1.159e1

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

GenotypeQuality
all individuals: 754
bin: 2.25e1
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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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 2685
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508614187007815e-5
allele num: 66286
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15658
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 4.952e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.216e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.029e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 9.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 5.891e1

DP
type: SiteQuality
SIO_000300: 1.940032e6

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4011
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 3.855050115651503e-4
allele num: 10376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.951813e6

QD
type: SiteQuality
SIO_000300: 1.501e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.98e0

FS
type: SiteQuality
SIO_000300: 5.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
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: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.955117e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.466e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

QD
type: SiteQuality
SIO_000300: 3.87e0

VQSLOD
type: SiteQuality
SIO_000300: -1.695e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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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: 3217
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variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494229443328637e-5
allele num: 66718
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.959243e6

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.317e0

FS
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

GenotypeQuality
all individuals: 7
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9331
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.61e0

VQSLOD
type: SiteQuality
SIO_000300: -1.015e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-1

FS
type: SiteQuality
SIO_000300: 7.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

DP
type: SiteQuality
SIO_000300: 1.958865e6

QD
type: SiteQuality
SIO_000300: 1.26e1

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
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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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variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.414e1

VQSLOD
type: SiteQuality
SIO_000300: -1.213e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.62e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.26e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.903e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2694
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GenotypeQuality
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GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

VQSLOD
type: SiteQuality
SIO_000300: -4.268e-1

FS
type: SiteQuality
SIO_000300: 5.212e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
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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variant carriers: 3

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495459585818323e-5
allele num: 66734
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.986e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

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
all individuals: 3
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GenotypeQuality
all individuals: 1509
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: -1.906e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.05e-1

DP
type: SiteQuality
SIO_000300: 1.959466e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.838e0

QD
type: SiteQuality
SIO_000300: 8.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

VQSLOD
type: SiteQuality
SIO_000300: -4.639e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 1.959795e6

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

QD
type: SiteQuality
SIO_000300: 1.742e1

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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bin: 7.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
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: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

DP
type: SiteQuality
SIO_000300: 1.959868e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.323e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.392e0

FS
type: SiteQuality
SIO_000300: 5.2e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

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: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.502e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 9.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

MQ
type: SiteQuality
SIO_000300: 5.732e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

DP
type: SiteQuality
SIO_000300: 1.95978e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.961e0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.95997e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.617e0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.515e0

QD
type: SiteQuality
SIO_000300: 1.394e1

MQRankSum
type: SiteQuality
SIO_000300: -1.209e0

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

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 2695
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 6600
bin: 9.75e1
variant carriers: 25

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9338
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variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 22
allele frequency: 2.542177027963947e-3
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 1.961875e6

QD
type: SiteQuality
SIO_000300: 1.433e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1048
bin: 8.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3205
bin: 7.25e1
variant carriers: 10

GenotypeQuality
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variant carriers: 20

GenotypeQuality
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bin: 1.75e1
variant carriers: 12

GenotypeQuality
all individuals: 5475
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variant carriers: 139

GenotypeQuality
all individuals: 2657
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variant carriers: 9

GenotypeQuality
all individuals: 1470
bin: 9.25e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 117
allele frequency: 1.772243933472689e-3
allele num: 66018
num of homozygotes: 0

African
type: Population
allele count: 28
allele frequency: 2.751031636863824e-3
allele num: 10178
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.466805338880222e-4
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.031037827352086e-4
allele num: 16496
num of homozygotes: 0

East Asian
type: Population
allele count: 41
allele frequency: 4.774103400093153e-3
allele num: 8588
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.524886877828055e-3
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 70
allele frequency: 1.106194690265487e-2
allele num: 6328
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.031e2

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 2.94924e2

DP
type: SiteQuality
SIO_000300: 2.068017e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

QD
type: SiteQuality
SIO_000300: 6.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.522e0

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: 3

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

East Asian
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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: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

QD
type: SiteQuality
SIO_000300: 1.371e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.63e-1

DP
type: SiteQuality
SIO_000300: 1.937619e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

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

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.799e0

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.937108e6

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
all individuals: 2707
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GenotypeQuality
all individuals: 6053
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variant carriers: 1

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.868e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.226e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

DP
type: SiteQuality
SIO_000300: 1.936841e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 3269
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GenotypeQuality
all individuals: 6055
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variant carriers: 2

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

GenotypeQuality
all individuals: 4053
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

QD
type: SiteQuality
SIO_000300: 1.215e1

DP
type: SiteQuality
SIO_000300: 1.936694e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.57e-1

GenotypeQuality
all individuals: 3272
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9448
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4053
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.492208103572285e-5
allele num: 66736
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.92270717169775e-4
allele num: 10402
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.495e1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 1.93744e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.99e0

GenotypeQuality
all individuals: 1531
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4055
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6047
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3270
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.512e0

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-1

QD
type: SiteQuality
SIO_000300: 1.467e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.85e0

DP
type: SiteQuality
SIO_000300: 1.936693e6

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3270
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6046
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32400
bin: 6.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.75e-1

QD
type: SiteQuality
SIO_000300: 1.424e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 4.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.498e0

DP
type: SiteQuality
SIO_000300: 1.936972e6

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9443
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6043
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2707
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496133325340207e-5
allele num: 66724
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 1.155e0

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.937195e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6047
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2706
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32264
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9426
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.635041802980734e-4
allele num: 16506
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.382e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

FS
type: SiteQuality
SIO_000300: 4.374e0

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.195e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.63e-1

DP
type: SiteQuality
SIO_000300: 1.937473e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6042
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4047
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2706
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-1

FS
type: SiteQuality
SIO_000300: 2.211e0

VQSLOD
type: SiteQuality
SIO_000300: 8.8e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

QD
type: SiteQuality
SIO_000300: 1.437e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

DP
type: SiteQuality
SIO_000300: 1.937393e6

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4047
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.827e0

QD
type: SiteQuality
SIO_000300: 1.034e1

MQRankSum
type: SiteQuality
SIO_000300: -1.137e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.491e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 5.823e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

DP
type: SiteQuality
SIO_000300: 1.937606e6

VQSLOD
type: SiteQuality
SIO_000300: -2.162e0

GenotypeQuality
all individuals: 9430
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4050
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6053
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 7
allele frequency: 4.240368306275745e-4
allele num: 16508
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.585e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

FS
type: SiteQuality
SIO_000300: 1.832e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-3

DP
type: SiteQuality
SIO_000300: 1.938159e6

VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3271
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6038
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
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: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.937509e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.63e0

FS
type: SiteQuality
SIO_000300: 4.348e0

QD
type: SiteQuality
SIO_000300: 1.449e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.44e-1

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9434
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4048
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2714
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6037
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3275
bin: 7.25e1
variant carriers: 0

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

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

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

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

East Asian
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allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

ClippingRankSum
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SIO_000300: -5.76e-1

InbreedingCoeff
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SIO_000300: -3.0e-4

VQSLOD
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FS
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BaseQRankSum
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QD
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MQRankSum
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SIO_000300: 2.8e-2

ReadPosRankSum
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DP
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SIO_000300: 1.937797e6

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
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African
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allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

VQSLOD
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FS
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DP
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QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: -3.3e-2

MQ
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ReadPosRankSum
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ClippingRankSum
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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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East Asian
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allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66732
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
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
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
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BaseQRankSum
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DP
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SIO_000300: 1.937795e6

ReadPosRankSum
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MQ
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QD
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MQRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16512
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African
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allele num: 10400
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.75e-1

BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
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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

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
allele num: 908
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

QD
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.937984e6

MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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SIO_000300: 5.112e0

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

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

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

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

InbreedingCoeff
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FS
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QD
type: SiteQuality
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ReadPosRankSum
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MQ
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SIO_000300: 5.945e1

ClippingRankSum
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MQRankSum
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BaseQRankSum
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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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Other
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allele num: 908
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Latino
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allele count: 0
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allele num: 11578
num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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FS
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QD
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VQSLOD
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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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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

Latino
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

FS
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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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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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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Latino
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East Asian
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QD
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ReadPosRankSum
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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ClippingRankSum
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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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European (Non-Finnish)
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European (Finnish)
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Other
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Latino
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South Asian
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East Asian
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African
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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VQSLOD
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QD
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FS
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 55
allele frequency: 4.750388668163759e-3
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 9.911894273127754e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 135
allele frequency: 8.175872093023256e-3
allele num: 16512
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 552
allele frequency: 8.271149869639486e-3
allele num: 66738
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 88
allele frequency: 1.330511037193831e-2
allele num: 6614
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 2.012117e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.01e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.489e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3298
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4068
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 4.516e1

DP
type: SiteQuality
SIO_000300: 1.927538e6

VQSLOD
type: SiteQuality
SIO_000300: -1.182e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.614e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.26e-1

QD
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 1.57789e2

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3299
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32823
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4068
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.829e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.398e0

MQ
type: SiteQuality
SIO_000300: 4.598e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 1.927514e6

MQRankSum
type: SiteQuality
SIO_000300: -1.459e0

FS
type: SiteQuality
SIO_000300: 2.5984e1

QD
type: SiteQuality
SIO_000300: 7.6e-1

GenotypeQuality
all individuals: 3296
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5632
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 3
allele frequency: 2.884615384615385e-4
allele num: 10400
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.21e0

FS
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.59e-1

DP
type: SiteQuality
SIO_000300: 1.927588e6

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1