11-119212507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212507
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212507
    reference: chr 11
allele count: 70
allele frequency: 5.889380605428326e-4
allele num: 118858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-25C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1121-25C>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1516-25C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1516-25C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1516-25C>T
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11373
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19340
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15711
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4640
  bin: 9.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26202
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

11-119212507-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212507
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212507
    reference: chr 11
allele count: 2
allele frequency: 1.682680172979522e-5
allele num: 118858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-25C>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1516-25C>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1516-25C>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1516-25C>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1121-25C>A
  variant of: http://identifiers.org/hgnc/14344
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26202
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4640
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
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: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-119212510-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212510
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212510
    reference: chr 11
allele count: 2
allele frequency: 1.680644022789533e-5
allele num: 119002
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1121-28G>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-28G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1516-28G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1516-28G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1516-28G>A
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19554
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4604
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-119212530-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212530
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212530
    reference: chr 11
allele count: 1
allele frequency: 8.369741709770836e-6
allele num: 119478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1515+37G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1515+37G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1122+37G>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1515+37G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-48G>A
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4452
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28407
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

11-119212540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212540
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212540
    reference: chr 11
allele count: 1
allele frequency: 8.352683717278361e-6
allele num: 119722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1515+27G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1122+27G>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1515+27G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1515+27G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-58G>A
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4615
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-119212541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212541
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212541
    reference: chr 11
allele count: 1
allele frequency: 8.353102342209896e-6
allele num: 119716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-59C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1515+26C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1515+26C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1122+26C>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1515+26C>T
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4619
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

11-119212545-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212545
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212545
    reference: chr 11
allele count: 2
allele frequency: 1.668975415992122e-5
allele num: 119834
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1122+22A>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1515+22A>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1515+22A>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-63A>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1515+22A>T
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21044
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29394
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4089
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4518
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

11-119212552-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212552
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212552
    reference: chr 11
allele count: 1
allele frequency: 8.334583520861462e-6
allele num: 119982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-70G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1515+15G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1515+15G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1122+15G>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1515+15G>A
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4516
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29736
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

11-119212553-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212553
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212553
    reference: chr 11
allele count: 1
allele frequency: 8.333888925928395e-6
allele num: 119992
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-71A>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1515+14A>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1515+14A>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1515+14A>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1122+14A>C
  variant of: http://identifiers.org/hgnc/14344
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11864
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4518
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

11-119212554-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212554
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212554
    reference: chr 11
allele count: 2
allele frequency: 1.666694444907415e-5
allele num: 119998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-72G>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1122+13G>C
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1515+13G>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1515+13G>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1515+13G>C
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4520
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

11-119212558-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212558
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212558
    reference: chr 11
allele count: 1
allele frequency: 8.327642777435419e-6
allele num: 120082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1515+9G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-76G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1122+9G>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1515+9G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1515+9G>A
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4529
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 29891
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genotype quality: GenotypeQuality
  all individuals: 25
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9812
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

11-119212560-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212560
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212560
    reference: chr 11
allele count: 2
allele frequency: 1.665057111458923e-5
allele num: 120116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1515+7T>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1515+7T>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-78T>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1515+7T>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1122+7T>C
  variant of: http://identifiers.org/hgnc/14344
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1515+7T>C
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-119212575-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212575
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212575
    reference: chr 11
allele count: 8
allele frequency: 6.651036730350343e-5
allele num: 120282
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1507G>A
  hgvsp: ENSP00000450509.1:p.Gly503Ser
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-93G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1507G>A
  hgvsp: ENSP00000456533.1:p.Gly503Ser
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1507G>A
  hgvsp: ENSP00000391664.2:p.Gly503Ser
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1130G>A
  variant of: http://identifiers.org/hgnc/14344
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9868
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4628
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 30137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly503Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

11-119212576-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212576
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212576
    reference: chr 11
allele count: 1
allele frequency: 8.312413758707254e-6
allele num: 120302
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1506C>A
  hgvsp: ENSP00000456533.1:p.Ser502Arg
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1506C>A
  hgvsp: ENSP00000391664.2:p.Ser502Arg
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1506C>A
  hgvsp: ENSP00000450509.1:p.Ser502Arg
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-94C>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1131C>A
  variant of: http://identifiers.org/hgnc/14344
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4525
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser502Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

11-119212578-TGAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212578
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212575
    reference: chr 11
allele count: 1
allele frequency: 8.311170212765958e-6
allele num: 120320
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1501_1503delCTC
  hgvsp: ENSP00000456533.1:p.Leu501del
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1501_1503delCTC
  hgvsp: ENSP00000450509.1:p.Leu501del
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1136_-1134delCTC
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1501_1503delCTC
  hgvsp: ENSP00000391664.2:p.Leu501del
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-99_1162-97delCTC
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu501del
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: TGAG
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

11-119212582-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212582
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212582
    reference: chr 11
allele count: 2
allele frequency: 1.661626399920242e-5
allele num: 120364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1500C>G
  hgvsp: ENST00000449574.2:c.1500C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-100C>G
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1137C>G
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1500C>G
  hgvsp: ENST00000555262.1:c.1500C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1500C>G
  hgvsp: ENST00000530681.1:c.1500C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9887
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val500Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

11-119212585-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212585
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212585
    reference: chr 11
allele count: 20
allele frequency: 1.66143315223712e-4
allele num: 120378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1497G>A
  hgvsp: ENST00000449574.2:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1140G>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1497G>A
  hgvsp: ENST00000555262.1:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1497G>A
  hgvsp: ENST00000530681.1:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-103G>A
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4641
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu499Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

11-119212589-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212589
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212589
    reference: chr 11
allele count: 6
allele frequency: 4.983057604145904e-5
allele num: 120408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1493T>C
  hgvsp: ENSP00000391664.2:p.Val498Ala
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1493T>C
  hgvsp: ENSP00000450509.1:p.Val498Ala
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-107T>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1493T>C
  hgvsp: ENSP00000456533.1:p.Val498Ala
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1144T>C
  variant of: http://identifiers.org/hgnc/14344
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21486
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val498Ala
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-119212596-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212596
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212596
    reference: chr 11
allele count: 3
allele frequency: 2.491156394798465e-5
allele num: 120426
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1486G>A
  hgvsp: ENSP00000450509.1:p.Glu496Lys
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1486G>A
  hgvsp: ENSP00000456533.1:p.Glu496Lys
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1486G>A
  hgvsp: ENSP00000391664.2:p.Glu496Lys
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1151G>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-114G>A
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu496Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

11-119212605-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212605
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212605
    reference: chr 11
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1160A>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-123A>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1477A>T
  hgvsp: ENSP00000450509.1:p.Thr493Ser
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1477A>T
  hgvsp: ENSP00000456533.1:p.Thr493Ser
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1477A>T
  hgvsp: ENSP00000391664.2:p.Thr493Ser
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr493Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum

11-119212611-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212611
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212611
    reference: chr 11
allele count: 1
allele frequency: 8.299443937256203e-6
allele num: 120490
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1471A>G
  hgvsp: ENSP00000456533.1:p.Met491Val
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-129A>G
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1471A>G
  hgvsp: ENSP00000450509.1:p.Met491Val
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1166A>G
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1471A>G
  hgvsp: ENSP00000391664.2:p.Met491Val
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met491Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

11-119212613-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212613
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212613
    reference: chr 11
allele count: 1
allele frequency: 8.299030673217368e-6
allele num: 120496
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1168G>C
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1469G>C
  hgvsp: ENSP00000456533.1:p.Gly490Ala
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1469G>C
  hgvsp: ENSP00000450509.1:p.Gly490Ala
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1469G>C
  hgvsp: ENSP00000391664.2:p.Gly490Ala
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-131G>C
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4627
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9899
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly490Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

11-119212621-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212621
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212621
    reference: chr 11
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1176C>G
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1461C>G
  hgvsp: ENSP00000391664.2:p.Ile487Met
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1461C>G
  hgvsp: ENSP00000456533.1:p.Ile487Met
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1461C>G
  hgvsp: ENSP00000450509.1:p.Ile487Met
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-139C>G
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile487Met
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff

11-119212621-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212621
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212621
    reference: chr 11
allele count: 12
allele frequency: 9.956853634251576e-5
allele num: 120520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-139C>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1461C>A
  hgvsp: ENST00000449574.2:c.1461C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1461C>A
  hgvsp: ENST00000555262.1:c.1461C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1176C>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1461C>A
  hgvsp: ENST00000530681.1:c.1461C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4637
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 30323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile487Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

11-119212624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212624
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212624
    reference: chr 11
allele count: 9
allele frequency: 7.467764151413067e-5
allele num: 120518
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1458C>T
  hgvsp: ENST00000530681.1:c.1458C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1458C>T
  hgvsp: ENST00000449574.2:c.1458C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-142C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1458C>T
  hgvsp: ENST00000555262.1:c.1458C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1179C>T
  variant of: http://identifiers.org/hgnc/14344
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4632
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn486Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-119212628-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212628
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212628
    reference: chr 11
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1454C>T
  hgvsp: ENSP00000456533.1:p.Pro485Leu
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1183C>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-146C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1454C>T
  hgvsp: ENSP00000391664.2:p.Pro485Leu
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1454C>T
  hgvsp: ENSP00000450509.1:p.Pro485Leu
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30332
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro485Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

11-119212634-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212634
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212634
    reference: chr 11
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1448C>T
  hgvsp: ENSP00000391664.2:p.Ala483Val
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1189C>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1448C>T
  hgvsp: ENSP00000450509.1:p.Ala483Val
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1448C>T
  hgvsp: ENSP00000456533.1:p.Ala483Val
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-152C>T
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4625
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala483Val
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

11-119212643-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212643
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212643
    reference: chr 11
allele count: 1
allele frequency: 8.298066550493736e-6
allele num: 120510
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1198A>C
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-161A>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1439A>C
  hgvsp: ENSP00000456533.1:p.Asn480Thr
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1439A>C
  hgvsp: ENSP00000391664.2:p.Asn480Thr
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1439A>C
  hgvsp: ENSP00000450509.1:p.Asn480Thr
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21605
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9900
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn480Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

11-119212645-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212645
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212645
    reference: chr 11
allele count: 2
allele frequency: 1.659695943703114e-5
allele num: 120504
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1437C>T
  hgvsp: ENST00000530681.1:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1437C>T
  hgvsp: ENST00000449574.2:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1200C>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1437C>T
  hgvsp: ENST00000555262.1:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-163C>T
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4626
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr479Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

11-119212645-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212645
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212645
    reference: chr 11
allele count: 1
allele frequency: 8.298479718515568e-6
allele num: 120504
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1200C>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1437C>A
  hgvsp: ENSP00000456533.1:p.Tyr479Ter
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1437C>A
  hgvsp: ENSP00000391664.2:p.Tyr479Ter
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-163C>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1437C>A
  hgvsp: ENSP00000450509.1:p.Tyr479Ter
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4626
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr479Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

11-119212647-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212647
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212647
    reference: chr 11
allele count: 1
allele frequency: 8.299168423323983e-6
allele num: 120494
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1202T>C
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1435T>C
  hgvsp: ENSP00000456533.1:p.Tyr479His
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1435T>C
  hgvsp: ENSP00000391664.2:p.Tyr479His
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-165T>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1435T>C
  hgvsp: ENSP00000450509.1:p.Tyr479His
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr479His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

11-119212655-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212655
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212655
    reference: chr 11
allele count: 1
allele frequency: 8.302337938363443e-6
allele num: 120448
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1210G>C
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1427G>C
  hgvsp: ENSP00000391664.2:p.Gly476Ala
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1427G>C
  hgvsp: ENSP00000450509.1:p.Gly476Ala
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-173G>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1427G>C
  hgvsp: ENSP00000456533.1:p.Gly476Ala
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4624
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly476Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

11-119212657-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212657
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212657
    reference: chr 11
allele count: 3
allele frequency: 2.491115023084333e-5
allele num: 120428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1425C>T
  hgvsp: ENST00000449574.2:c.1425C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1425C>T
  hgvsp: ENST00000555262.1:c.1425C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1425C>T
  hgvsp: ENST00000530681.1:c.1425C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-175C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1212C>T
  variant of: http://identifiers.org/hgnc/14344
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4113
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4529
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4627
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Leu475Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

11-119212657-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212657
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212657
    reference: chr 11
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1425C>G
  hgvsp: ENST00000449574.2:c.1425C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1212C>G
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-175C>G
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1425C>G
  hgvsp: ENST00000530681.1:c.1425C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1425C>G
  hgvsp: ENST00000555262.1:c.1425C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu475Leu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-119212661-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212661
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212661
    reference: chr 11
allele count: 1
allele frequency: 8.305233958440609e-6
allele num: 120406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1216G>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1421G>T
  hgvsp: ENSP00000450509.1:p.Cys474Phe
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1421G>T
  hgvsp: ENSP00000456533.1:p.Cys474Phe
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1421G>T
  hgvsp: ENSP00000391664.2:p.Cys474Phe
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-179G>T
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4626
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys474Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

11-119212666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212666
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212666
    reference: chr 11
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1416G>A
  hgvsp: ENST00000530681.1:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1416G>A
  hgvsp: ENST00000449574.2:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-184G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1416G>A
  hgvsp: ENST00000555262.1:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1221G>A
  variant of: http://identifiers.org/hgnc/14344
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9881
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4626
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu472Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

11-119212670-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212670
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212670
    reference: chr 11
allele count: 2
allele frequency: 1.662510390689942e-5
allele num: 120300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1412T>A
  hgvsp: ENSP00000391664.2:p.Val471Glu
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-188T>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1225T>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1412T>A
  hgvsp: ENSP00000456533.1:p.Val471Glu
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1412T>A
  hgvsp: ENSP00000450509.1:p.Val471Glu
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29990
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val471Glu
num of homozygotes: 1
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

11-119212671-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212671
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212671
    reference: chr 11
allele count: 3
allele frequency: 2.494138773881379e-5
allele num: 120282
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1411G>A
  hgvsp: ENSP00000450509.1:p.Val471Met
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1226G>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1411G>A
  hgvsp: ENSP00000391664.2:p.Val471Met
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1411G>A
  hgvsp: ENSP00000456533.1:p.Val471Met
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-189G>A
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val471Met
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

11-119212672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212672
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212672
    reference: chr 11
allele count: 2
allele frequency: 1.662869780667476e-5
allele num: 120274
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1410G>A
  hgvsp: ENST00000555262.1:c.1410G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1410G>A
  hgvsp: ENST00000530681.1:c.1410G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1227G>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1410G>A
  hgvsp: ENST00000449574.2:c.1410G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-190G>A
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4630
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4522
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln470Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

11-119212673-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212673
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212673
    reference: chr 11
allele count: 3
allele frequency: 2.494304671001214e-5
allele num: 120274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1409A>T
  hgvsp: ENSP00000391664.2:p.Gln470Leu
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1228A>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1409A>T
  hgvsp: ENSP00000450509.1:p.Gln470Leu
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-191A>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1409A>T
  hgvsp: ENSP00000456533.1:p.Gln470Leu
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21553
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4631
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4520
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29978
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln470Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

11-119212700-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212700
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212700
    reference: chr 11
allele count: 1
allele frequency: 8.342092530490349e-6
allele num: 119874
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1388-6C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1388-6C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1249-6C>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-218C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1388-6C>T
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4630
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1388-6C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

11-119212702-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212702
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212702
    reference: chr 11
allele count: 9
allele frequency: 7.506255212677231e-5
allele num: 119900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1388-8C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1249-8C>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-220C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1388-8C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1388-8C>T
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4637
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4503
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1388-8C>T
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

11-119212714-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212714
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212714
    reference: chr 11
allele count: 1
allele frequency: 8.35421888053467e-6
allele num: 119700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1388-20C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1388-20C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1388-20C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-232C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1249-20C>T
  variant of: http://identifiers.org/hgnc/14344
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4635
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

11-119212730-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212730
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212730
    reference: chr 11
allele count: 1
allele frequency: 8.372965369415233e-6
allele num: 119432
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1388-36C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-248C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1388-36C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1249-36C>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1388-36C>T
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4633
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9010
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

11-119212739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212739
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212739
    reference: chr 11
allele count: 2
allele frequency: 1.676727028839705e-5
allele num: 119280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1388-45G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1249-45G>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-257G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1388-45G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1388-45G>A
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16989
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

11-119212746-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119212746
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119212746
    reference: chr 11
allele count: 2
allele frequency: 1.680502806439687e-5
allele num: 119012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1162-264C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1249-52C>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1388-52C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1388-52C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1388-52C>T
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7920
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-119213255-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213255
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213255
    reference: chr 11
allele count: 11
allele frequency: 1.022285831118381e-4
allele num: 107602
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1387+51A>G
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1387+51A>G
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1387+51A>G
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1250+51A>G
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1161+51A>G
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16067
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13720
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11960
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4167
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4742
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5574
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

11-119213261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213261
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213261
    reference: chr 11
allele count: 25
allele frequency: 2.322556670382757e-4
allele num: 107640
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1387+45C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1387+45C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1250+45C>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1161+45C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1387+45C>T
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5359
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14896
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 13670
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12967
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5531
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5924
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3002
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 4273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6079
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

11-119213270-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213270
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213270
    reference: chr 11
allele count: 1
allele frequency: 9.252576842650678e-6
allele num: 108078
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1250+36G>C
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1387+36G>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1161+36G>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1387+36G>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1387+36G>C
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5346
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5260
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-119213280-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213280
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213280
    reference: chr 11
allele count: 2
allele frequency: 1.835131762460545e-5
allele num: 108984
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1387+26T>G
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1161+26T>G
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1250+26T>G
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1387+26T>G
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1387+26T>G
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4440
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

11-119213281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213281
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213281
    reference: chr 11
allele count: 2
allele frequency: 1.833415837046e-5
allele num: 109086
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1250+25C>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1387+25C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1161+25C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1387+25C>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1387+25C>T
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

11-119213286-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213286
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213286
    reference: chr 11
allele count: 1
allele frequency: 9.119095385737735e-6
allele num: 109660
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1161+20G>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1387+20G>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1250+20G>C
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1387+20G>C
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1387+20G>C
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

11-119213286-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213286
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213286
    reference: chr 11
allele count: 7
allele frequency: 6.383366770016414e-5
allele num: 109660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1387+20G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1387+20G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1161+20G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1250+20G>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1387+20G>A
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8688
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25170
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9603
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5557
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/11-119213294-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213294
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213294
    reference: chr 11
allele count: 1
allele frequency: 9.025759517663412e-6
allele num: 110794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1387+12G>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1250+12G>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1387+12G>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1387+12G>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1161+12G>T
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26774
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6079
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/11-119213303-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213303
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213303
    reference: chr 11
allele count: 2
allele frequency: 1.769880179111874e-5
allele num: 113002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1387+3G>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1387+3G>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1161+3G>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1387+3G>T
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1250+3G>T
  variant of: http://identifiers.org/hgnc/14344
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16658
  bin: 9.75e1
  variant carriers: 1
hgvs: c.-1250+3G>T
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-119213303-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213303
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213303
    reference: chr 11
allele count: 19013
allele frequency: 1.682536592272703e-1
allele num: 113002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1161+3G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1387+3G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1250+3G>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1387+3G>A
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1387+3G>A
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 3.25e1
  variant carriers: 2611
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 422
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.75e1
  variant carriers: 841
genotype depth: GenotypeDepth
  all individuals: 11540
  bin: 2.75e1
  variant carriers: 3049
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 588
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 1.25e1
  variant carriers: 574
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 1.75e1
  variant carriers: 1512
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.75e1
  variant carriers: 1822
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 256
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 4.25e1
  variant carriers: 1297
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 7.5e0
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 22720
  bin: 2.25e1
  variant carriers: 2478
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 264
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 2.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 9.25e1
  variant carriers: 240
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 5.25e1
  variant carriers: 154
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 7.25e1
  variant carriers: 133
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 5.75e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 2.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 7.75e1
  variant carriers: 211
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 3.25e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 19330
  bin: 6.25e1
  variant carriers: 176
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.75e1
  variant carriers: 121
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 4.25e1
  variant carriers: 52
hgvs: c.-1250+3G>A
num of homozygotes: 2850
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

11-119213318-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213318
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213318
    reference: chr 11
allele count: 1
allele frequency: 8.670470112889521e-6
allele num: 115334
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1375T>C
  hgvsp: ENSP00000456533.1:p.Phe459Leu
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1375T>C
  hgvsp: ENSP00000391664.2:p.Phe459Leu
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1262T>C
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1149T>C
  hgvsp: ENST00000360167.4:c.1149T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1375T>C
  hgvsp: ENSP00000450509.1:p.Phe459Leu
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23655
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6602
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe459Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/11-119213319-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213319
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213319
    reference: chr 11
allele count: 985
allele frequency: 8.536860168830493e-3
allele num: 115382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1148G>T
  hgvsp: ENSP00000353291.4:p.Cys383Phe
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1374G>T
  hgvsp: ENSP00000391664.2:p.Leu458Phe
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1374G>T
  hgvsp: ENSP00000456533.1:p.Leu458Phe
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1374G>T
  hgvsp: ENSP00000450509.1:p.Leu458Phe
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1263G>T
  variant of: http://identifiers.org/hgnc/14344
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 3.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 23317
  bin: 2.25e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 13278
  bin: 2.75e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 3.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 1.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7144
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23007
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7484
  bin: 9.75e1
  variant carriers: 967
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu458Phe
num of homozygotes: 6
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

11-119213320-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213320
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213320
    reference: chr 11
allele count: 1
allele frequency: 8.649920420732129e-6
allele num: 115608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1373T>C
  hgvsp: ENSP00000391664.2:p.Leu458Ser
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1373T>C
  hgvsp: ENSP00000456533.1:p.Leu458Ser
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1147T>C
  hgvsp: ENSP00000353291.4:p.Cys383Arg
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1373T>C
  hgvsp: ENSP00000450509.1:p.Leu458Ser
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1264T>C
  variant of: http://identifiers.org/hgnc/14344
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu458Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

11-119213322-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213322
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213322
    reference: chr 11
allele count: 1
allele frequency: 8.637219506296534e-6
allele num: 115778
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1371C>G
  hgvsp: ENST00000555262.1:c.1371C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1266C>G
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1371C>G
  hgvsp: ENST00000530681.1:c.1371C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1145C>G
  hgvsp: ENSP00000353291.4:p.Pro382Arg
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1371C>G
  hgvsp: ENST00000449574.2:c.1371C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13546
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro382Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

11-119213323-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213323
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213323
    reference: chr 11
allele count: 1
allele frequency: 8.632745731107236e-6
allele num: 115838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1370C>T
  hgvsp: ENSP00000391664.2:p.Pro457Leu
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1370C>T
  hgvsp: ENSP00000450509.1:p.Pro457Leu
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1370C>T
  hgvsp: ENSP00000456533.1:p.Pro457Leu
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1144C>T
  hgvsp: ENSP00000353291.4:p.Pro382Ser
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1267C>T
  variant of: http://identifiers.org/hgnc/14344
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4114
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro457Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

11-119213327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213327
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213327
    reference: chr 11
allele count: 11
allele frequency: 9.464808122526243e-5
allele num: 116220
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1366G>A
  hgvsp: ENSP00000450509.1:p.Gly456Ser
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1366G>A
  hgvsp: ENSP00000456533.1:p.Gly456Ser
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1271G>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1366G>A
  hgvsp: ENSP00000391664.2:p.Gly456Ser
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1140G>A
  hgvsp: ENST00000360167.4:c.1140G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23926
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6899
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly456Ser
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

11-119213328-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213328
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213328
    reference: chr 11
allele count: 17
allele frequency: 1.461284555081832e-4
allele num: 116336
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1365C>T
  hgvsp: ENST00000555262.1:c.1365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1139C>T
  hgvsp: ENSP00000353291.4:p.Ala380Val
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1365C>T
  hgvsp: ENST00000449574.2:c.1365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1272C>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1365C>T
  hgvsp: ENST00000530681.1:c.1365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14065
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6916
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3594
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala380Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

11-119213328-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213328
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213328
    reference: chr 11
allele count: 1
allele frequency: 8.595791500481364e-6
allele num: 116336
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1365C>G
  hgvsp: ENSP00000456533.1:p.Ser455Arg
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1272C>G
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1365C>G
  hgvsp: ENSP00000391664.2:p.Ser455Arg
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1139C>G
  hgvsp: ENSP00000353291.4:p.Ala380Gly
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1365C>G
  hgvsp: ENSP00000450509.1:p.Ser455Arg
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6916
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser455Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

11-119213329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213329
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213329
    reference: chr 11
allele count: 1
allele frequency: 8.57368222504201e-6
allele num: 116636
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1364G>A
  hgvsp: ENSP00000456533.1:p.Ser455Asn
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1138G>A
  hgvsp: ENSP00000353291.4:p.Ala380Thr
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1364G>A
  hgvsp: ENSP00000450509.1:p.Ser455Asn
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1273G>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1364G>A
  hgvsp: ENSP00000391664.2:p.Ser455Asn
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24225
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser455Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

11-119213331-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213331
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213331
    reference: chr 11
allele count: 2
allele frequency: 1.711332443440463e-5
allele num: 116868
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1362C>G
  hgvsp: ENSP00000450509.1:p.Cys454Trp
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1362C>G
  hgvsp: ENSP00000391664.2:p.Cys454Trp
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1275C>G
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1136C>G
  hgvsp: ENSP00000353291.4:p.Ala379Gly
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1362C>G
  hgvsp: ENSP00000456533.1:p.Cys454Trp
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14311
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys454Trp
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

11-119213341-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213341
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213341
    reference: chr 11
allele count: 1
allele frequency: 8.500365515717176e-6
allele num: 117642
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1352A>T
  hgvsp: ENSP00000456533.1:p.Asp451Val
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1285A>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1126A>T
  hgvsp: ENSP00000353291.4:p.Met376Leu
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1352A>T
  hgvsp: ENSP00000450509.1:p.Asp451Val
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1352A>T
  hgvsp: ENSP00000391664.2:p.Asp451Val
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8069
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp451Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

11-119213342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213342
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213342
    reference: chr 11
allele count: 2
allele frequency: 1.699466367560586e-5
allele num: 117684
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1351G>A
  hgvsp: ENSP00000450509.1:p.Asp451Asn
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1286G>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1351G>A
  hgvsp: ENSP00000391664.2:p.Asp451Asn
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1125G>A
  hgvsp: ENST00000360167.4:c.1125G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1351G>A
  hgvsp: ENSP00000456533.1:p.Asp451Asn
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26283
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp451Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

11-119213343-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213343
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213343
    reference: chr 11
allele count: 1
allele frequency: 8.486803021301875e-6
allele num: 117830
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1287C>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1124C>T
  hgvsp: ENSP00000353291.4:p.Ala375Val
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1350C>T
  hgvsp: ENST00000530681.1:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1350C>T
  hgvsp: ENST00000555262.1:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1350C>T
  hgvsp: ENST00000449574.2:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6981
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8099
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala375Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/11-119213347-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213347
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213347
    reference: chr 11
allele count: 1
allele frequency: 8.456659619450317e-6
allele num: 118250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1346G>T
  hgvsp: ENSP00000391664.2:p.Gly449Val
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1291G>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1346G>T
  hgvsp: ENSP00000450509.1:p.Gly449Val
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1120G>T
  hgvsp: ENSP00000353291.4:p.Ala374Ser
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1346G>T
  hgvsp: ENSP00000456533.1:p.Gly449Val
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26970
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8265
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly449Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

11-119213348-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213348
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213348
    reference: chr 11
allele count: 45
allele frequency: 3.803116865555593e-4
allele num: 118324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1119G>A
  hgvsp: ENSP00000353291.4:p.Met373Ile
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1345G>A
  hgvsp: ENSP00000450509.1:p.Gly449Ser
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1345G>A
  hgvsp: ENSP00000391664.2:p.Gly449Ser
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1345G>A
  hgvsp: ENSP00000456533.1:p.Gly449Ser
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1292G>A
  variant of: http://identifiers.org/hgnc/14344
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15221
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24810
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8293
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly449Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

11-119213349-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213349
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213349
    reference: chr 11
allele count: 1
allele frequency: 8.444376889429329e-6
allele num: 118422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1344T>C
  hgvsp: ENST00000449574.2:c.1344T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1344T>C
  hgvsp: ENST00000530681.1:c.1344T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1344T>C
  hgvsp: ENST00000555262.1:c.1344T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1293T>C
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1118T>C
  hgvsp: ENSP00000353291.4:p.Met373Thr
  variant of: http://identifiers.org/hgnc/18121
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8314
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7035
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met373Thr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

11-119213351-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213351
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213351
    reference: chr 11
allele count: 13
allele frequency: 1.096935331443229e-4
allele num: 118512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1116G>A
  hgvsp: ENST00000360167.4:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1342G>A
  hgvsp: ENSP00000391664.2:p.Asp448Asn
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1295G>A
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1342G>A
  hgvsp: ENSP00000456533.1:p.Asp448Asn
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1342G>A
  hgvsp: ENSP00000450509.1:p.Asp448Asn
  variant of: http://identifiers.org/hgnc/18121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8330
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27118
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp448Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

11-119213352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 119213352
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 119213352
    reference: chr 11
allele count: 1
allele frequency: 8.432983083435934e-6
allele num: 118582
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000223953
  ensembl protein: ENSP00000402389
  ensembl transcript: ENST00000445041
  gene symbol: C1QTNF5
  hgvsc: ENST00000445041.2:c.-1296C>T
  variant of: http://identifiers.org/hgnc/14344
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000450509
  ensembl transcript: ENST00000555262
  gene symbol: MFRP
  hgvsc: ENST00000555262.1:c.1341C>T
  hgvsp: ENST00000555262.1:c.1341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000391664
  ensembl transcript: ENST00000449574
  gene symbol: MFRP
  hgvsc: ENST00000449574.2:c.1341C>T
  hgvsp: ENST00000449574.2:c.1341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259159
  ensembl protein: ENSP00000456533
  ensembl transcript: ENST00000530681
  gene symbol: MFRP
  hgvsc: ENST00000530681.1:c.1341C>T
  hgvsp: ENST00000530681.1:c.1341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000235718
  ensembl protein: ENSP00000353291
  ensembl transcript: ENST00000360167
  gene symbol: MFRP
  hgvsc: ENST00000360167.4:c.1115C>T
  hgvsp: ENSP00000353291.4:p.Pro372Leu
  variant of: http://identifiers.org/hgnc/18121
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro372Leu
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 3162
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1470
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3928
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 61
allele frequency: 3.701456310679611e-3
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.38585199100736e-4
allele num: 64942
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 1.700386e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.118e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.99e0

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

QD
type: SiteQuality
SIO_000300: 1.291e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 712
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3928
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4326
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.079671091127467e-5
allele num: 64942
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: 10104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.291e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.99e0

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

DP
type: SiteQuality
SIO_000300: 1.700386e6

FS
type: SiteQuality
SIO_000300: 1.118e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

GenotypeQuality
all individuals: 26497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4373
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3964
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1517
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9188
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.075125311356438e-5
allele num: 65038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.137e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.700907e6

MQRankSum
type: SiteQuality
SIO_000300: 8.94e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.878e0

FS
type: SiteQuality
SIO_000300: 5.644e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.312e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 1543
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1792
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3234
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4613
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65340
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
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: 6486
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.261e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.789e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.908e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.112e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.723522e6

GenotypeQuality
all individuals: 3240
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4491
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4083
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526857422053929e-5
allele num: 65494
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.621e0

DP
type: SiteQuality
SIO_000300: 1.73212e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: 2.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

QD
type: SiteQuality
SIO_000300: 1.912e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.73e-1

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65498
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.54e0

DP
type: SiteQuality
SIO_000300: 1.733559e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.603e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4621
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9725
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3239
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.050547573289405e-5
allele num: 65562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.03e-1

DP
type: SiteQuality
SIO_000300: 1.735597e6

QD
type: SiteQuality
SIO_000300: 1.144e1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 3.135e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.045e0

GenotypeQuality
all individuals: 9780
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4097
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65642
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

DP
type: SiteQuality
SIO_000300: 1.739037e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 1.049e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -6.788999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.656e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29733
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4621
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
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: 884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.515e0

VQSLOD
type: SiteQuality
SIO_000300: -2.883e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.758e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.264e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.739242e6

QD
type: SiteQuality
SIO_000300: 1.212e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 3247
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4102
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29761
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31696014828545e-4
allele num: 8632
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: 6538
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.464e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.197e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.739782e6

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1793
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4106
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4621
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65706
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: -1.203e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-1

MQ
type: SiteQuality
SIO_000300: 5.881e1

QD
type: SiteQuality
SIO_000300: 7.98e0

DP
type: SiteQuality
SIO_000300: 1.741348e6

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4620
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
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: 6550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52151421094273e-5
allele num: 65724
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.742325e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.186e1

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.261e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.745e0

GenotypeQuality
all individuals: 1795
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4527
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.06318347509113e-4
allele num: 65840
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

MQ
type: SiteQuality
SIO_000300: 5.88e1

DP
type: SiteQuality
SIO_000300: 1.745775e6

QD
type: SiteQuality
SIO_000300: 1.354e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

FS
type: SiteQuality
SIO_000300: 3.341e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.642e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4115
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9862
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65850
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.01e1

DP
type: SiteQuality
SIO_000300: 1.746015e6

ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

FS
type: SiteQuality
SIO_000300: 1.469e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65860
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

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

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

QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.961e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.753e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-1

FS
type: SiteQuality
SIO_000300: 7.68e-1

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.279e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.035361966914554e-5
allele num: 65890
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.13e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

DP
type: SiteQuality
SIO_000300: 1.747063e6

FS
type: SiteQuality
SIO_000300: 2.731e0

QD
type: SiteQuality
SIO_000300: 1.164e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.034901365705615e-4
allele num: 65900
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

FS
type: SiteQuality
SIO_000300: 1.152e0

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.748029e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.309e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

African
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allele count: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.585411736149038e-5
allele num: 65916
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

QD
type: SiteQuality
SIO_000300: 1.457e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.98e0

DP
type: SiteQuality
SIO_000300: 1.747781e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.473026163463765e-4
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
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: 16506
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: 896
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.233e1

FS
type: SiteQuality
SIO_000300: 3.361e0

VQSLOD
type: SiteQuality
SIO_000300: 9.320000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.748617e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.575e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51666818333485e-5
allele num: 65934
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.182e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

QD
type: SiteQuality
SIO_000300: 3.307e1

DP
type: SiteQuality
SIO_000300: 1.748966e6

FS
type: SiteQuality
SIO_000300: 1.4343e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.46e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515886490419597e-5
allele num: 65968
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

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

ReadPosRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515794579518584e-5
allele num: 65972
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.749721e6

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515335192144502e-5
allele num: 65992
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.25e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

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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variant carriers: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.389532190829088e-3
allele num: 8636
num of homozygotes: 0

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

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

South Asian
type: Population
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allele num: 16506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 3
allele frequency: 4.544077552256892e-4
allele num: 6602
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.576675960722512e-5
allele num: 65992
num of homozygotes: 0

South Asian
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Other
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ReadPosRankSum
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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QD
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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.515243348081702e-5
allele num: 65996
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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FS
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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 1.750009e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.05913717886573e-5
allele num: 16504
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Latino
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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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

Other
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 1.5148760831364e-5
allele num: 66012
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

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

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

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

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

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

East Asian
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allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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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bin: 6.25e1
variant carriers: 0

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

East Asian
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allele frequency: 1.157943492357573e-4
allele num: 8636
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South Asian
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Latino
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allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66004
num of homozygotes: 0

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

Other
type: Population
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.749059e6

MQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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FS
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QD
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VQSLOD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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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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European (Finnish)
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allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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African
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allele frequency: 9.701202949165696e-5
allele num: 10308
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
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MQ
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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Latino
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allele num: 11538
num of homozygotes: 0

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

East Asian
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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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Other
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.746848e6

QD
type: SiteQuality
SIO_000300: 1.281e1

MQRankSum
type: SiteQuality
SIO_000300: -1.474e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.058e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.999999999999999e-3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 1

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.164e1

VQSLOD
type: SiteQuality
SIO_000300: -1.835e-1

DP
type: SiteQuality
SIO_000300: 1.745922e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.87e-2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65888
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.318034306907742e-4
allele num: 8628
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.745789e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.97e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.107e0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.219e1

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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517957436473481e-5
allele num: 65878
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.69e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.199e0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQRankSum
type: SiteQuality
SIO_000300: 9.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.149e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e0

DP
type: SiteQuality
SIO_000300: 1.745705e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818622696411251e-4
allele num: 16496
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

DP
type: SiteQuality
SIO_000300: 1.745847e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 7.32e-1

MQ
type: SiteQuality
SIO_000300: 5.921e1

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

FS
type: SiteQuality
SIO_000300: 2.216e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.316e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 151
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variant carriers: 0

GenotypeQuality
all individuals: 3240
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6546
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East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65652
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.279e0

DP
type: SiteQuality
SIO_000300: 1.732779e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 1.262e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 331
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GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.460502366217692e-4
allele num: 16482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65670
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

FS
type: SiteQuality
SIO_000300: 3.025e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.035e0

VQSLOD
type: SiteQuality
SIO_000300: 8.83e-1

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.733065e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525785779676533e-5
allele num: 65540
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.718721e6

QD
type: SiteQuality
SIO_000300: 1.912e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.82e-1

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

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.0e-1

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

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
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African
type: Population
allele count: 1
allele frequency: 9.854158454867954e-5
allele num: 10148
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.458e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

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

Latino
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allele num: 11432
num of homozygotes: 0

African
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South Asian
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allele count: 2
allele frequency: 1.21713729308666e-4
allele num: 16432
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65302
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.661438e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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: 2

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.76731544800982e-5
allele num: 11406
num of homozygotes: 0

South Asian
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allele frequency: 6.100536847242558e-5
allele num: 16392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65174
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.064e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.276487107480214e-3
allele num: 7834
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European (Non-Finnish)
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allele frequency: 1.686226898691488e-5
allele num: 59304
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 780
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South Asian
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allele frequency: 0.0e0
allele num: 15304
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5230
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.179151e6

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4959
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5218
num of homozygotes: 0

South Asian
type: Population
allele count: 25
allele frequency: 1.629513753096076e-3
allele num: 15342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8850
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.307e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.645e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.192489e6

GenotypeQuality
all individuals: 4529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2992
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5270
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.126887536623845e-4
allele num: 8874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.585e0

QD
type: SiteQuality
SIO_000300: 9.41e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.341e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.236893e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.026e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e0

GenotypeQuality
all individuals: 364
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3007
bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 2
allele frequency: 1.289989680082559e-4
allele num: 15504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60016
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

DP
type: SiteQuality
SIO_000300: 1.301227e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.278e1

FS
type: SiteQuality
SIO_000300: 3.163e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.769e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

GenotypeQuality
all individuals: 1581
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6156
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20663
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5193
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.287995878413189e-4
allele num: 15528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60040
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.211e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.206e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.305667e6

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.685e0

FS
type: SiteQuality
SIO_000300: 7.675e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

GenotypeQuality
all individuals: 720
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3721
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9032
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.658154805332626e-5
allele num: 60308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.335515e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

FS
type: SiteQuality
SIO_000300: 2.914e0

QD
type: SiteQuality
SIO_000300: 1.373e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

MQRankSum
type: SiteQuality
SIO_000300: 9.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

GenotypeQuality
all individuals: 2970
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3037
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 23451
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1233
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60308
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.75022143489814e-4
allele num: 9032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.335515e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.57e-1

FS
type: SiteQuality
SIO_000300: 2.914e0

QD
type: SiteQuality
SIO_000300: 1.373e1

GenotypeQuality
all individuals: 2101
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2927
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24688
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.35970490969219e-5
allele num: 15724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.585e0

FS
type: SiteQuality
SIO_000300: 1.707e0

DP
type: SiteQuality
SIO_000300: 1.377241e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.019e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 7.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

GenotypeQuality
all individuals: 2402
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4885
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10824
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.201923076923077e-4
allele num: 8320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.616814874696847e-5
allele num: 61850
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.593173e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.579e-1

QD
type: SiteQuality
SIO_000300: 1.682e1

VQSLOD
type: SiteQuality
SIO_000300: 7.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.256e0

GenotypeQuality
all individuals: 529
bin: 7.5e0
variant carriers: 24

GenotypeQuality
all individuals: 264
bin: 2.5e0
variant carriers: 17

GenotypeQuality
all individuals: 254
bin: 1.75e1
variant carriers: 23

GenotypeQuality
all individuals: 4885
bin: 6.75e1
variant carriers: 209

GenotypeQuality
all individuals: 16658
bin: 9.75e1
variant carriers: 14429

GenotypeQuality
all individuals: 1649
bin: 8.25e1
variant carriers: 209

GenotypeQuality
all individuals: 696
bin: 4.75e1
variant carriers: 105

Other
type: Population
allele count: 115
allele frequency: 1.388888888888889e-1
allele num: 828
num of homozygotes: 12

European (Non-Finnish)
type: Population
allele count: 4423
allele frequency: 7.151172190784155e-2
allele num: 61850
num of homozygotes: 160

African
type: Population
allele count: 697
allele frequency: 7.518878101402374e-2
allele num: 9270
num of homozygotes: 37

South Asian
type: Population
allele count: 6895
allele frequency: 4.266707920792079e-1
allele num: 16160
num of homozygotes: 1533

Latino
type: Population
allele count: 2580
allele frequency: 2.383592017738359e-1
allele num: 10824
num of homozygotes: 295

European (Finnish)
type: Population
allele count: 622
allele frequency: 1.081739130434783e-1
allele num: 5750
num of homozygotes: 33

East Asian
type: Population
allele count: 3681
allele frequency: 4.424278846153846e-1
allele num: 8320
num of homozygotes: 780

BaseQRankSum
type: SiteQuality
SIO_000300: -2.256e0

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

QD
type: SiteQuality
SIO_000300: 1.682e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.579e-1

DP
type: SiteQuality
SIO_000300: 1.593173e6

VQSLOD
type: SiteQuality
SIO_000300: 7.29e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3435
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3090
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.140997297961189e-5
allele num: 16284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9496
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 6.9e-3

FS
type: SiteQuality
SIO_000300: 2.205e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.85e-1

DP
type: SiteQuality
SIO_000300: 1.612931e6

GenotypeQuality
all individuals: 3390
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 668
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1316
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3933
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1592
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 520
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 87
allele frequency: 7.80689160086145e-3
allele num: 11144
num of homozygotes: 0

Other
type: Population
allele count: 11
allele frequency: 1.291079812206573e-2
allele num: 852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 15
allele frequency: 2.492522432701894e-3
allele num: 6018
num of homozygotes: 0

South Asian
type: Population
allele count: 143
allele frequency: 8.777314019150504e-3
allele num: 16292
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 669
allele frequency: 1.060591648435271e-2
allele num: 63078
num of homozygotes: 3

African
type: Population
allele count: 59
allele frequency: 6.215760640539402e-3
allele num: 9492
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175640724194686e-4
allele num: 8506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.62896e6

FS
type: SiteQuality
SIO_000300: 1.269e0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

QD
type: SiteQuality
SIO_000300: 1.29e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.609e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e-1

GenotypeQuality
all individuals: 4045
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3459
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7361
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6858
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.652346331791143e-4
allele num: 6052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.872e0

FS
type: SiteQuality
SIO_000300: 3.424e0

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQ
type: SiteQuality
SIO_000300: 5.805e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.843e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

DP
type: SiteQuality
SIO_000300: 1.629059e6

GenotypeQuality
all individuals: 6863
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4075
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579679009225326e-5
allele num: 63304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.665e-1

FS
type: SiteQuality
SIO_000300: 1.958e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.635098e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.31e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578432301038608e-5
allele num: 63354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.637516e6

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 1.097e1

FS
type: SiteQuality
SIO_000300: 2.825e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.205e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 821
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variant carriers: 0

GenotypeQuality
all individuals: 1691
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variant carriers: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.215962441314554e-4
allele num: 8520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.912655971479501e-5
allele num: 11220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.718316504671134e-5
allele num: 63582
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.65068e6

MQRankSum
type: SiteQuality
SIO_000300: -4.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 1.941e0

QD
type: SiteQuality
SIO_000300: 1.366e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25060
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17343346632246e-4
allele num: 8522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.141591530269235e-5
allele num: 63662
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.578431372549019e-4
allele num: 16320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

FS
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.63e-1

DP
type: SiteQuality
SIO_000300: 1.658542e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 286
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GenotypeQuality
all individuals: 3172
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570795765134617e-5
allele num: 63662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.63e-1

DP
type: SiteQuality
SIO_000300: 1.658542e6

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

FS
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.317e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

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
all individuals: 4331
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63844
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.120700208103807e-5
allele num: 16338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.209e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.256e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 1.662399e6

FS
type: SiteQuality
SIO_000300: 4.693e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.209e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.463e1

VQSLOD
type: SiteQuality
SIO_000300: -3.66e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.12656328164082e-5
allele num: 63968
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.658e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.351e0

FS
type: SiteQuality
SIO_000300: 2.217e0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.670176e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551927493947483e-5
allele num: 64436
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.731e0

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-1

DP
type: SiteQuality
SIO_000300: 1.690044e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.103515625e-5
allele num: 16384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551109042965721e-5
allele num: 64470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.25e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.548994702438118e-5
allele num: 64558
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.062e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

QD
type: SiteQuality
SIO_000300: 1.274e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 3480
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64780
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.008267795926598e-4
allele num: 9918
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.037e0

FS
type: SiteQuality
SIO_000300: 3.819e0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.379e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.399e0

DP
type: SiteQuality
SIO_000300: 1.706935e6

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3888
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27020
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7054
bin: 9.75e1
variant carriers: 45

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.008064516129032e-4
allele num: 9920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 42
allele frequency: 6.480081463881261e-4
allele num: 64814
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.759324419422942e-4
allele num: 11368
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.762e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.71006e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

FS
type: SiteQuality
SIO_000300: 5.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-1

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3499
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1567
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541402059313151e-5
allele num: 64876
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.090000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.710929e6

QD
type: SiteQuality
SIO_000300: 1.53e1

MQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.523e0

GenotypeQuality
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7048
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 253
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3912
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.095330976472023e-5
allele num: 16406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 7.026172492534692e-4
allele num: 11386
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.620502710694924e-5
allele num: 64928
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.349e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.379e1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

DP
type: SiteQuality
SIO_000300: 1.71394e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1