7-131012625-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012625
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012625
    reference: chr 7
allele count: 1
allele frequency: 8.973438621679828e-6
allele num: 111440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+124T>C
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.-34A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.11A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-240A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47558A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47558A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42765A>G
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38073
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-131012627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012627
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012627
    reference: chr 7
allele count: 2
allele frequency: 1.796686909339179e-5
allele num: 111316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47556C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47556C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.13C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-238C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42767C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.-32C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+122G>A
  variant of: http://identifiers.org/hgnc/40374
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24211
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5683
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

7-131012628-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012628
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012628
    reference: chr 7
allele count: 3
allele frequency: 2.686823816006305e-5
allele num: 111656
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.14G>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42768G>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+121C>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.-31G>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47555G>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-237G>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47555G>T
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3873
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-131012633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012633
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012633
    reference: chr 7
allele count: 1
allele frequency: 8.910908734472741e-6
allele num: 112222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+116C>T
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.19G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47550G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-232G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47550G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.-26G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42773G>A
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5883
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

7-131012634-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012634
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012634
    reference: chr 7
allele count: 5
allele frequency: 4.456645750142613e-5
allele num: 112192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47549T>C
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42774T>C
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47549T>C
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-231T>C
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.-25T>C
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.20T>C
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+115A>G
  variant of: http://identifiers.org/hgnc/40374
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

7-131012638-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012638
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012638
    reference: chr 7
allele count: 1
allele frequency: 8.867921181916535e-6
allele num: 112766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-227G>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.-21G>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42778G>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47545G>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47545G>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+111C>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.24G>T
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/7-131012641-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012641
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012641
    reference: chr 7
allele count: 8
allele frequency: 7.063768167128755e-5
allele num: 113254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47542C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.27C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-224C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.-18C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47542C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42781C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+108G>T
  variant of: http://identifiers.org/hgnc/40374
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20383
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 9.75e1
  variant carriers: 7
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-131012641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012641
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012641
    reference: chr 7
allele count: 1
allele frequency: 8.829710208910944e-6
allele num: 113254
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.-18C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47542C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+108G>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-224C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47542C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.27C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42781C>T
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

7-131012642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012642
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012642
    reference: chr 7
allele count: 3
allele frequency: 2.643917227764656e-5
allele num: 113468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+107C>T
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.1G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47541G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47541G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.-17G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42782G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-223G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.28G>A
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25867
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20536
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

7-131012644-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012644
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012644
    reference: chr 7
allele count: 1
allele frequency: 8.780247954202227e-6
allele num: 113892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47539T>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+105A>C
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42784T>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.3T>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.30T>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-221T>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.-15T>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47539T>G
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

7-131012645-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012645
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012645
    reference: chr 7
allele count: 1
allele frequency: 8.778552241164388e-6
allele num: 113914
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47538A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+104T>C
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.31A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.-14A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47538A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42785A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-220A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.4A>G
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6274
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/7-131012646-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012646
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012646
    reference: chr 7
allele count: 1
allele frequency: 8.76731544800982e-6
allele num: 114060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47537C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47537C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-219C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.-13C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42786C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.5C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+103G>T
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.32C>A
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

7-131012646-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012646
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012646
    reference: chr 7
allele count: 3
allele frequency: 2.630194634402946e-5
allele num: 114060
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.-13C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.5C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-219C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47537C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47537C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.32C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+103G>C
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42786C>G
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-131012646-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012646
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012646
    reference: chr 7
allele count: 2
allele frequency: 1.753463089601964e-5
allele num: 114060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-219C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.32C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42786C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47537C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+103G>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.-13C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47537C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.5C>T
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20887
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

7-131012647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012647
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012647
    reference: chr 7
allele count: 2
allele frequency: 1.749995625010938e-5
allele num: 114286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47536G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42787G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-218G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.-12G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+102C>T
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.6G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47536G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.33G>A
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-131012649-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012649
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012649
    reference: chr 7
allele count: 51
allele frequency: 4.456172235425695e-4
allele num: 114448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47534T>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-216T>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.8T>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.-10T>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+100A>C
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.35T>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47534T>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42789T>G
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 26824
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21108
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

7-131012650-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012650
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012650
    reference: chr 7
allele count: 2
allele frequency: 1.742160278745645e-5
allele num: 114800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47533G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.36G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42790G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+99C>T
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.-9G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.9G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-215G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47533G>A
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

7-131012668-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012668
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012668
    reference: chr 7
allele count: 1
allele frequency: 8.76024949190553e-6
allele num: 114152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47515G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-197G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.27G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47515G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42808G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.10G>A
  hgvsp: ENSP00000323527.6:p.Gly4Ser
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+81C>T
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.54G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.10G>A
  hgvsp: ENSP00000407705.1:p.Gly4Ser
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly4Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

7-131012670-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012670
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012670
    reference: chr 7
allele count: 5
allele frequency: 4.612205741273707e-5
allele num: 108408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.12C>G
  hgvsp: ENST00000458153.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47513C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.56C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.29C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.12C>G
  hgvsp: ENST00000352689.6:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+79G>C
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47513C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42810C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-195C>G
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25981
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42665
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly4Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-131012670-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012670
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012670
    reference: chr 7
allele count: 1
allele frequency: 9.224411482547414e-6
allele num: 108408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.12C>T
  hgvsp: ENST00000352689.6:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.29C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42810C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-195C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.56C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.12C>T
  hgvsp: ENST00000458153.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47513C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+79G>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47513C>T
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly4Gly
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

7-131012671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012671
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012671
    reference: chr 7
allele count: 1
allele frequency: 8.721741557354173e-6
allele num: 114656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47512G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.13G>A
  hgvsp: ENSP00000323527.6:p.Gly5Arg
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47512G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.13G>A
  hgvsp: ENSP00000407705.1:p.Gly5Arg
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.30G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.57G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-194G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42811G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+78C>T
  variant of: http://identifiers.org/hgnc/40374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly5Arg
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

7-131012673-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012673
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012673
    reference: chr 7
allele count: 2
allele frequency: 1.756543123133673e-5
allele num: 113860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.15A>G
  hgvsp: ENST00000458153.1:c.15A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.15A>G
  hgvsp: ENST00000352689.6:c.15A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-192A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47510A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.32A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42813A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+76T>C
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47510A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.59A>G
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26197
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly5Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

7-131012675-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012675
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012675
    reference: chr 7
allele count: 7
allele frequency: 6.106710402344977e-5
allele num: 114628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.17C>T
  hgvsp: ENSP00000407705.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.17C>T
  hgvsp: ENSP00000323527.6:p.Ala6Val
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-190C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.61C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47508C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.34C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47508C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+74G>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42815C>T
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26482
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Ala6Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-131012677-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012677
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012677
    reference: chr 7
allele count: 1
allele frequency: 8.706857520983527e-6
allele num: 114852
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47506G>C
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42817G>C
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.36G>C
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+72C>G
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-188G>C
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.19G>C
  hgvsp: ENSP00000407705.1:p.Val7Leu
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.63G>C
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.19G>C
  hgvsp: ENSP00000323527.6:p.Val7Leu
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47506G>C
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val7Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-131012679-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012679
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012679
    reference: chr 7
allele count: 1
allele frequency: 8.698677800974252e-6
allele num: 114960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47504C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.65C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.21C>A
  hgvsp: ENST00000352689.6:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.21C>A
  hgvsp: ENST00000458153.1:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47504C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+70G>T
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.38C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-186C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42819C>A
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val7Val
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

7-131012679-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012679
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012679
    reference: chr 7
allele count: 3
allele frequency: 2.609603340292276e-5
allele num: 114960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47504C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42819C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-186C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.21C>G
  hgvsp: ENST00000352689.6:c.21C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.38C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.21C>G
  hgvsp: ENST00000458153.1:c.21C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47504C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+70G>C
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.65C>G
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val7Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

7-131012679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012679
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012679
    reference: chr 7
allele count: 1
allele frequency: 8.698677800974252e-6
allele num: 114960
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-186C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42819C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47504C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.21C>T
  hgvsp: ENST00000458153.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.38C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.65C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47504C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.21C>T
  hgvsp: ENST00000352689.6:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+70G>A
  variant of: http://identifiers.org/hgnc/40374
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val7Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-131012681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012681
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012681
    reference: chr 7
allele count: 1
allele frequency: 8.684475631361379e-6
allele num: 115148
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.23C>T
  hgvsp: ENSP00000323527.6:p.Ala8Val
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-184C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47502C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.40C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+68G>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.23C>T
  hgvsp: ENSP00000407705.1:p.Ala8Val
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.67C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42821C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47502C>T
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala8Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS

7-131012684-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012684
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012684
    reference: chr 7
allele count: 4
allele frequency: 3.470595380637548e-5
allele num: 115254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42824C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47499C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-181C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.43C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.26C>T
  hgvsp: ENSP00000407705.1:p.Ala9Val
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.26C>T
  hgvsp: ENSP00000323527.6:p.Ala9Val
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47499C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+65G>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.70C>T
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27437
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala9Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

7-131012686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012686
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012686
    reference: chr 7
allele count: 1
allele frequency: 8.656209965028912e-6
allele num: 115524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42826G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.28G>A
  hgvsp: ENSP00000323527.6:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.45G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47497G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.72G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.28G>A
  hgvsp: ENSP00000407705.1:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+63C>T
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-179G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47497G>A
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala10Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-131012686-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012686
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012686
    reference: chr 7
allele count: 1
allele frequency: 8.656209965028912e-6
allele num: 115524
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.45G>C
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.72G>C
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+63C>G
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.28G>C
  hgvsp: ENSP00000407705.1:p.Ala10Pro
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-179G>C
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47497G>C
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.28G>C
  hgvsp: ENSP00000323527.6:p.Ala10Pro
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47497G>C
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42826G>C
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala10Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

7-131012687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012687
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012687
    reference: chr 7
allele count: 2
allele frequency: 1.731122113353876e-5
allele num: 115532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.46C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-178C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47496C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.29C>T
  hgvsp: ENSP00000407705.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.29C>T
  hgvsp: ENSP00000323527.6:p.Ala10Val
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47496C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42827C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.73C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+62G>A
  variant of: http://identifiers.org/hgnc/40374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala10Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

7-131012689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012689
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012689
    reference: chr 7
allele count: 4
allele frequency: 3.450000862500216e-5
allele num: 115942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.31C>T
  hgvsp: ENSP00000407705.1:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42829C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-176C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47494C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+60G>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.75C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47494C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.48C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.31C>T
  hgvsp: ENSP00000323527.6:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6280
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro11Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

7-131012691-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012691
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012691
    reference: chr 7
allele count: 2
allele frequency: 1.72102228723862e-5
allele num: 116210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+58G>C
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.33C>G
  hgvsp: ENST00000458153.1:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.77C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.50C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-174C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.33C>G
  hgvsp: ENST00000352689.6:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47492C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47492C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42831C>G
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro11Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

7-131012691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012691
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012691
    reference: chr 7
allele count: 1
allele frequency: 8.605111436193099e-6
allele num: 116210
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.33C>T
  hgvsp: ENST00000352689.6:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+58G>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-174C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47492C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.77C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.33C>T
  hgvsp: ENST00000458153.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.50C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47492C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42831C>T
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46510
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro11Pro
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

7-131012693-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012693
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012693
    reference: chr 7
allele count: 6
allele frequency: 5.150479853039642e-5
allele num: 116494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47490A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+56T>C
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.35A>G
  hgvsp: ENSP00000323527.6:p.Glu12Gly
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47490A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.79A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.35A>G
  hgvsp: ENSP00000407705.1:p.Glu12Gly
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42833A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.52A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-172A>G
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu12Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

7-131012694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012694
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012694
    reference: chr 7
allele count: 1
allele frequency: 8.574417368339821e-6
allele num: 116626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.36G>A
  hgvsp: ENST00000458153.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-171G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.53G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.80G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47489G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+55C>T
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.36G>A
  hgvsp: ENST00000352689.6:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47489G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42834G>A
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu12Glu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

7-131012696-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012696
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012696
    reference: chr 7
allele count: 1
allele frequency: 8.559738414394057e-6
allele num: 116826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42836G>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.82G>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.55G>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.38G>T
  hgvsp: ENSP00000323527.6:p.Cys13Phe
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.38G>T
  hgvsp: ENSP00000407705.1:p.Cys13Phe
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+53C>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47487G>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47487G>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-169G>T
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys13Phe
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

7-131012697-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012697
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012697
    reference: chr 7
allele count: 3
allele frequency: 2.566954736031488e-5
allele num: 116870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.39C>T
  hgvsp: ENST00000458153.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.83C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47486C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.39C>T
  hgvsp: ENST00000352689.6:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.56C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47486C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-168C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+52G>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42837C>T
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28369
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys13Cys
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/7-131012698-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012698
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012698
    reference: chr 7
allele count: 2
allele frequency: 1.709255619177848e-5
allele num: 117010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47485C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.40C>A
  hgvsp: ENST00000352689.6:c.40C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-167C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47485C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.40C>A
  hgvsp: ENST00000458153.1:c.40C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+51G>T
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.57C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42838C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.84C>A
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46937
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg14Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

7-131012698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012698
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012698
    reference: chr 7
allele count: 1
allele frequency: 8.54627809588924e-6
allele num: 117010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.84C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.40C>T
  hgvsp: ENSP00000323527.6:p.Arg14Trp
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-167C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47485C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+51G>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47485C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42838C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.40C>T
  hgvsp: ENSP00000407705.1:p.Arg14Trp
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.57C>T
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46937
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg14Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-131012701-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012701
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012701
    reference: chr 7
allele count: 1
allele frequency: 8.51643672287515e-6
allele num: 117420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.87C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42841C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.43C>T
  hgvsp: ENSP00000323527.6:p.Leu15Phe
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47482C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-164C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.43C>T
  hgvsp: ENSP00000407705.1:p.Leu15Phe
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.60C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47482C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+48G>A
  variant of: http://identifiers.org/hgnc/40374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu15Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum

7-131012704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012704
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012704
    reference: chr 7
allele count: 10
allele frequency: 8.515566455480618e-5
allele num: 117432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-161C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.46C>T
  hgvsp: ENSP00000323527.6:p.Leu16Phe
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42844C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47479C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.46C>T
  hgvsp: ENSP00000407705.1:p.Leu16Phe
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.90C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+45G>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.63C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47479C>T
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28383
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22475
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 2.25e1
  variant carriers: 2
hgvs: p.Leu16Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/7-131012706-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012706
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012706
    reference: chr 7
allele count: 1
allele frequency: 8.481764206955047e-6
allele num: 117900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.48C>A
  hgvsp: ENST00000458153.1:c.48C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.48C>A
  hgvsp: ENST00000352689.6:c.48C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-159C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+43G>T
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.92C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.65C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47477C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47477C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42846C>A
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu16Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

7-131012706-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012706
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012706
    reference: chr 7
allele count: 1
allele frequency: 8.481764206955047e-6
allele num: 117900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+43G>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47477C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.48C>T
  hgvsp: ENST00000458153.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.92C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42846C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.48C>T
  hgvsp: ENST00000352689.6:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.65C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47477C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-159C>T
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu16Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/7-131012707-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012707
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012707
    reference: chr 7
allele count: 1
allele frequency: 8.474145382438182e-6
allele num: 118006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.49C>A
  hgvsp: ENSP00000407705.1:p.Pro17Thr
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47476C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+42G>T
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42847C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.66C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.49C>A
  hgvsp: ENSP00000323527.6:p.Pro17Thr
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.93C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47476C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-158C>A
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro17Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

7-131012709-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012709
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012709
    reference: chr 7
allele count: 2
allele frequency: 1.693021365929638e-5
allele num: 118132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.68C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.95C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.51C>T
  hgvsp: ENST00000352689.6:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42849C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-156C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47474C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+40G>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47474C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.51C>T
  hgvsp: ENST00000458153.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro17Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

7-131012716-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012716
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012716
    reference: chr 7
allele count: 23
allele frequency: 1.943979579762327e-4
allele num: 118314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42856C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.75C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-149C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.58C>T
  hgvsp: ENST00000352689.6:c.58C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+33G>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.58C>T
  hgvsp: ENST00000458153.1:c.58C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.102C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47467C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47467C>T
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu20Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

7-131012718-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012718
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012718
    reference: chr 7
allele count: 8
allele frequency: 6.762696963549064e-5
allele num: 118296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+31T>C
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-147A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47465A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.104A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.77A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42858A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.60A>G
  hgvsp: ENST00000458153.1:c.60A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47465A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.60A>G
  hgvsp: ENST00000352689.6:c.60A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22709
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6431
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu20Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-131012723-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012723
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012723
    reference: chr 7
allele count: 1
allele frequency: 8.445945945945946e-6
allele num: 118400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47460A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47460A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-142A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.109A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.65A>G
  hgvsp: ENSP00000323527.6:p.Lys22Arg
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.65A>G
  hgvsp: ENSP00000407705.1:p.Lys22Arg
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+26T>C
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.82A>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42863A>G
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22751
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys22Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-131012738-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012738
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012738
    reference: chr 7
allele count: 1
allele frequency: 8.498631720293032e-6
allele num: 117666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+11G>T
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.80C>A
  hgvsp: ENSP00000323527.6:p.Ser27Tyr
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.80C>A
  hgvsp: ENSP00000407705.1:p.Ser27Tyr
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-127C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47445C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.97C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.124C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47445C>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42878C>A
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser27Tyr
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

7-131012744-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012744
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012744
    reference: chr 7
allele count: 1
allele frequency: 8.536793580331227e-6
allele num: 117140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47439C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-121C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.86C>T
  hgvsp: ENSP00000323527.6:p.Thr29Ile
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.130C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.86C>T
  hgvsp: ENSP00000407705.1:p.Thr29Ile
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.103C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42884C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233+5G>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47439C>T
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26777
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6099
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr29Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

7-131012749-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012749
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012749
    reference: chr 7
allele count: 1
allele frequency: 8.577947811765514e-6
allele num: 116578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.108C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.91C>G
  hgvsp: ENSP00000407705.1:p.Leu31Val
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.233G>C
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-116C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47434C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.91C>G
  hgvsp: ENSP00000323527.6:p.Leu31Val
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.135C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42889C>G
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47434C>G
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu31Val
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

7-131012755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012755
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012755
    reference: chr 7
allele count: 4
allele frequency: 3.470836298006004e-5
allele num: 115246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.97G>A
  hgvsp: ENSP00000407705.1:p.Glu33Lys
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.114G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-110G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42895G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.97G>A
  hgvsp: ENSP00000323527.6:p.Glu33Lys
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.141G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.227C>T
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47428G>A
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47428G>A
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu33Lys
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

7-131012764-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131012764
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 131012764
    reference: chr 7
allele count: 2
allele frequency: 1.77641980352797e-5
allele num: 112586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494785
  gene symbol: MKLN1
  hgvsc: ENST00000494785.1:n.115+8C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl transcript: ENST00000494286
  gene symbol: MKLN1
  hgvsc: ENST00000494286.1:n.142+8C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000407705
  ensembl transcript: ENST00000458153
  gene symbol: MKLN1
  hgvsc: ENST00000458153.1:c.98+8C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236753
  ensembl transcript: ENST00000447514
  gene symbol: MKLN1-AS
  hgvsc: ENST00000447514.1:n.218G>A
  variant of: http://identifiers.org/hgnc/40374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000387920
  ensembl transcript: ENST00000416992
  gene symbol: MKLN1
  hgvsc: ENST00000416992.2:c.-178-47419C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000398094
  ensembl transcript: ENST00000421797
  gene symbol: MKLN1
  hgvsc: ENST00000421797.2:c.-178-47419C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000412815
  ensembl transcript: ENST00000446815
  gene symbol: MKLN1
  hgvsc: ENST00000446815.1:c.-109+8C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000399954
  ensembl transcript: ENST00000429546
  gene symbol: MKLN1
  hgvsc: ENST00000429546.1:c.-179+42904C>T
  variant of: http://identifiers.org/hgnc/7109
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128585
  ensembl protein: ENSP00000323527
  ensembl transcript: ENST00000352689
  gene symbol: MKLN1
  hgvsc: ENST00000352689.6:c.98+8C>T
  variant of: http://identifiers.org/hgnc/7109
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20618
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.75e1
  variant carriers: 2
hgvs: c.98+8C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

8-29006143-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29006143
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 29006143
    reference: chr 8
allele count: 1
allele frequency: 8.648424257100357e-6
allele num: 115628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429201
  ensembl transcript: ENST00000521515
  gene symbol: KIF13B
  hgvsc: ENST00000521515.1:c.1764T>C
  hgvsp: ENST00000521515.1:c.1764T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429027
  ensembl transcript: ENST00000522355
  gene symbol: KIF13B
  hgvsc: ENST00000522355.1:c.*1411T>C
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000427900
  ensembl transcript: ENST00000524189
  gene symbol: KIF13B
  hgvsc: ENST00000524189.1:c.1764T>C
  hgvsp: ENST00000524189.1:c.1764T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14405
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn588Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

8-29006149-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29006149
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 29006149
    reference: chr 8
allele count: 3
allele frequency: 2.5556710340245e-5
allele num: 117386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429201
  ensembl transcript: ENST00000521515
  gene symbol: KIF13B
  hgvsc: ENST00000521515.1:c.1758C>T
  hgvsp: ENST00000521515.1:c.1758C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429027
  ensembl transcript: ENST00000522355
  gene symbol: KIF13B
  hgvsc: ENST00000522355.1:c.*1405C>T
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000427900
  ensembl transcript: ENST00000524189
  gene symbol: KIF13B
  hgvsc: ENST00000524189.1:c.1758C>T
  hgvsp: ENST00000524189.1:c.1758C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14405
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Asn586Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

8-29006152-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29006152
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 29006152
    reference: chr 8
allele count: 1
allele frequency: 8.460809530255856e-6
allele num: 118192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429027
  ensembl transcript: ENST00000522355
  gene symbol: KIF13B
  hgvsc: ENST00000522355.1:c.*1402T>C
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000427900
  ensembl transcript: ENST00000524189
  gene symbol: KIF13B
  hgvsc: ENST00000524189.1:c.1755T>C
  hgvsp: ENST00000524189.1:c.1755T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429201
  ensembl transcript: ENST00000521515
  gene symbol: KIF13B
  hgvsc: ENST00000521515.1:c.1755T>C
  hgvsp: ENST00000521515.1:c.1755T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14405
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val585Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

8-29006153-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29006153
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 29006153
    reference: chr 8
allele count: 98
allele frequency: 8.27800584528576e-4
allele num: 118386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000427900
  ensembl transcript: ENST00000524189
  gene symbol: KIF13B
  hgvsc: ENST00000524189.1:c.1754T>A
  hgvsp: ENSP00000427900.1:p.Val585Asp
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429201
  ensembl transcript: ENST00000521515
  gene symbol: KIF13B
  hgvsc: ENST00000521515.1:c.1754T>A
  hgvsp: ENSP00000429201.1:p.Val585Asp
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429027
  ensembl transcript: ENST00000522355
  gene symbol: KIF13B
  hgvsc: ENST00000522355.1:c.*1401T>A
  variant of: http://identifiers.org/hgnc/14405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41914
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 9.75e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41944
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val585Asp
num of homozygotes: 1
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

8-29006155-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29006155
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 29006155
    reference: chr 8
allele count: 2
allele frequency: 1.682595234890295e-5
allele num: 118864
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000427900
  ensembl transcript: ENST00000524189
  gene symbol: KIF13B
  hgvsc: ENST00000524189.1:c.1752A>T
  hgvsp: ENSP00000427900.1:p.Glu584Asp
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429027
  ensembl transcript: ENST00000522355
  gene symbol: KIF13B
  hgvsc: ENST00000522355.1:c.*1399A>T
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429201
  ensembl transcript: ENST00000521515
  gene symbol: KIF13B
  hgvsc: ENST00000521515.1:c.1752A>T
  hgvsp: ENSP00000429201.1:p.Glu584Asp
  variant of: http://identifiers.org/hgnc/14405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu584Asp
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

8-29006169-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29006169
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 29006169
    reference: chr 8
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429027
  ensembl transcript: ENST00000522355
  gene symbol: KIF13B
  hgvsc: ENST00000522355.1:c.*1385G>A
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000427900
  ensembl transcript: ENST00000524189
  gene symbol: KIF13B
  hgvsc: ENST00000524189.1:c.1738G>A
  hgvsp: ENSP00000427900.1:p.Glu580Lys
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429201
  ensembl transcript: ENST00000521515
  gene symbol: KIF13B
  hgvsc: ENST00000521515.1:c.1738G>A
  hgvsp: ENSP00000429201.1:p.Glu580Lys
  variant of: http://identifiers.org/hgnc/14405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu580Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

8-29006170-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29006170
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 29006170
    reference: chr 8
allele count: 3
allele frequency: 2.489378651088688e-5
allele num: 120512
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000427900
  ensembl transcript: ENST00000524189
  gene symbol: KIF13B
  hgvsc: ENST00000524189.1:c.1737C>T
  hgvsp: ENST00000524189.1:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429027
  ensembl transcript: ENST00000522355
  gene symbol: KIF13B
  hgvsc: ENST00000522355.1:c.*1384C>T
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429201
  ensembl transcript: ENST00000521515
  gene symbol: KIF13B
  hgvsc: ENST00000521515.1:c.1737C>T
  hgvsp: ENST00000521515.1:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14405
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser579Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

8-29006184-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29006184
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 29006184
    reference: chr 8
allele count: 3
allele frequency: 2.485830764641543e-5
allele num: 120684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429027
  ensembl transcript: ENST00000522355
  gene symbol: KIF13B
  hgvsc: ENST00000522355.1:c.*1370G>A
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429201
  ensembl transcript: ENST00000521515
  gene symbol: KIF13B
  hgvsc: ENST00000521515.1:c.1723G>A
  hgvsp: ENSP00000429201.1:p.Gly575Arg
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000427900
  ensembl transcript: ENST00000524189
  gene symbol: KIF13B
  hgvsc: ENST00000524189.1:c.1723G>A
  hgvsp: ENSP00000427900.1:p.Gly575Arg
  variant of: http://identifiers.org/hgnc/14405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6179
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly575Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

8-29006202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29006202
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 29006202
    reference: chr 8
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000427900
  ensembl transcript: ENST00000524189
  gene symbol: KIF13B
  hgvsc: ENST00000524189.1:c.1705G>A
  hgvsp: ENSP00000427900.1:p.Glu569Lys
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429027
  ensembl transcript: ENST00000522355
  gene symbol: KIF13B
  hgvsc: ENST00000522355.1:c.*1352G>A
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429201
  ensembl transcript: ENST00000521515
  gene symbol: KIF13B
  hgvsc: ENST00000521515.1:c.1705G>A
  hgvsp: ENSP00000429201.1:p.Glu569Lys
  variant of: http://identifiers.org/hgnc/14405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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  variant carriers: 0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu569Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

8-29006204-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29006204
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 29006204
    reference: chr 8
allele count: 4
allele frequency: 3.314386092835955e-5
allele num: 120686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429201
  ensembl transcript: ENST00000521515
  gene symbol: KIF13B
  hgvsc: ENST00000521515.1:c.1703C>A
  hgvsp: ENSP00000429201.1:p.Ser568Tyr
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000427900
  ensembl transcript: ENST00000524189
  gene symbol: KIF13B
  hgvsc: ENST00000524189.1:c.1703C>A
  hgvsp: ENSP00000427900.1:p.Ser568Tyr
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429027
  ensembl transcript: ENST00000522355
  gene symbol: KIF13B
  hgvsc: ENST00000522355.1:c.*1350C>A
  variant of: http://identifiers.org/hgnc/14405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser568Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/8-29006207-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29006207
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 29006207
    reference: chr 8
allele count: 14
allele frequency: 1.160112033676395e-4
allele num: 120678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429201
  ensembl transcript: ENST00000521515
  gene symbol: KIF13B
  hgvsc: ENST00000521515.1:c.1700G>T
  hgvsp: ENSP00000429201.1:p.Ser567Ile
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000427900
  ensembl transcript: ENST00000524189
  gene symbol: KIF13B
  hgvsc: ENST00000524189.1:c.1700G>T
  hgvsp: ENSP00000427900.1:p.Ser567Ile
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429027
  ensembl transcript: ENST00000522355
  gene symbol: KIF13B
  hgvsc: ENST00000522355.1:c.*1347G>T
  variant of: http://identifiers.org/hgnc/14405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser567Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

8-29006214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29006214
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 29006214
    reference: chr 8
allele count: 2
allele frequency: 1.657522666622466e-5
allele num: 120662
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000427900
  ensembl transcript: ENST00000524189
  gene symbol: KIF13B
  hgvsc: ENST00000524189.1:c.1693G>A
  hgvsp: ENSP00000427900.1:p.Glu565Lys
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429027
  ensembl transcript: ENST00000522355
  gene symbol: KIF13B
  hgvsc: ENST00000522355.1:c.*1340G>A
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429201
  ensembl transcript: ENST00000521515
  gene symbol: KIF13B
  hgvsc: ENST00000521515.1:c.1693G>A
  hgvsp: ENSP00000429201.1:p.Glu565Lys
  variant of: http://identifiers.org/hgnc/14405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43206
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu565Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

8-29006215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29006215
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 29006215
    reference: chr 8
allele count: 3
allele frequency: 2.486448853747078e-5
allele num: 120654
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000427900
  ensembl transcript: ENST00000524189
  gene symbol: KIF13B
  hgvsc: ENST00000524189.1:c.1692C>T
  hgvsp: ENST00000524189.1:c.1692C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429201
  ensembl transcript: ENST00000521515
  gene symbol: KIF13B
  hgvsc: ENST00000521515.1:c.1692C>T
  hgvsp: ENST00000521515.1:c.1692C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429027
  ensembl transcript: ENST00000522355
  gene symbol: KIF13B
  hgvsc: ENST00000522355.1:c.*1339C>T
  variant of: http://identifiers.org/hgnc/14405
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42487
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn564Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD

8-29006224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29006224
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 29006224
    reference: chr 8
allele count: 1
allele frequency: 8.28953694646617e-6
allele num: 120634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429201
  ensembl transcript: ENST00000521515
  gene symbol: KIF13B
  hgvsc: ENST00000521515.1:c.1683C>T
  hgvsp: ENST00000521515.1:c.1683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429027
  ensembl transcript: ENST00000522355
  gene symbol: KIF13B
  hgvsc: ENST00000522355.1:c.*1330C>T
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000427900
  ensembl transcript: ENST00000524189
  gene symbol: KIF13B
  hgvsc: ENST00000524189.1:c.1683C>T
  hgvsp: ENST00000524189.1:c.1683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14405
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser561Ser
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

8-29006229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29006229
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 29006229
    reference: chr 8
allele count: 2
allele frequency: 1.658292290599141e-5
allele num: 120606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429027
  ensembl transcript: ENST00000522355
  gene symbol: KIF13B
  hgvsc: ENST00000522355.1:c.*1325C>T
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429201
  ensembl transcript: ENST00000521515
  gene symbol: KIF13B
  hgvsc: ENST00000521515.1:c.1678C>T
  hgvsp: ENSP00000429201.1:p.Pro560Ser
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000427900
  ensembl transcript: ENST00000524189
  gene symbol: KIF13B
  hgvsc: ENST00000524189.1:c.1678C>T
  hgvsp: ENSP00000427900.1:p.Pro560Ser
  variant of: http://identifiers.org/hgnc/14405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6160
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro560Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

8-29006249-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29006249
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 29006249
    reference: chr 8
allele count: 1
allele frequency: 8.323483877411729e-6
allele num: 120142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429201
  ensembl transcript: ENST00000521515
  gene symbol: KIF13B
  hgvsc: ENST00000521515.1:c.1658G>A
  hgvsp: ENSP00000429201.1:p.Arg553Gln
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000427900
  ensembl transcript: ENST00000524189
  gene symbol: KIF13B
  hgvsc: ENST00000524189.1:c.1658G>A
  hgvsp: ENSP00000427900.1:p.Arg553Gln
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429027
  ensembl transcript: ENST00000522355
  gene symbol: KIF13B
  hgvsc: ENST00000522355.1:c.*1305G>A
  variant of: http://identifiers.org/hgnc/14405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg553Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

8-29006250-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29006250
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 29006250
    reference: chr 8
allele count: 34
allele frequency: 2.831068478550493e-4
allele num: 120096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429027
  ensembl transcript: ENST00000522355
  gene symbol: KIF13B
  hgvsc: ENST00000522355.1:c.*1304C>A
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000427900
  ensembl transcript: ENST00000524189
  gene symbol: KIF13B
  hgvsc: ENST00000524189.1:c.1657C>A
  hgvsp: ENST00000524189.1:c.1657C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197892
  ensembl protein: ENSP00000429201
  ensembl transcript: ENST00000521515
  gene symbol: KIF13B
  hgvsc: ENST00000521515.1:c.1657C>A
  hgvsp: ENST00000521515.1:c.1657C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14405
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Arg553Arg
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 219
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 592
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5813
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3965
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.647012319652151e-5
allele num: 60716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5940
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.361986e6

FS
type: SiteQuality
SIO_000300: 6.147e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.366e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 1.166e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.49e-1

GenotypeQuality
all individuals: 37000
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3776
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1485
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.298697014679201e-5
allele num: 60630
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.369132e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.583e0

QD
type: SiteQuality
SIO_000300: 1.235e1

GenotypeQuality
all individuals: 594
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 1
allele frequency: 6.185056902523504e-5
allele num: 16168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.643925694558606e-5
allele num: 60830
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.028530155290719e-5
allele num: 11076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

FS
type: SiteQuality
SIO_000300: 1.1629e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 1.375512e6

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

VQSLOD
type: SiteQuality
SIO_000300: -1.387e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.633880138553036e-5
allele num: 61204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.106e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

DP
type: SiteQuality
SIO_000300: 1.39362e6

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

GenotypeQuality
all individuals: 961
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39744
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5879
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.994423457456377e-5
allele num: 11118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.634841747318859e-5
allele num: 61168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5972
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.853224610822832e-4
allele num: 16188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

FS
type: SiteQuality
SIO_000300: 1.384e0

QD
type: SiteQuality
SIO_000300: 1.645e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 1.395989e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

GenotypeQuality
all individuals: 1069
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41010
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3489
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.963786303334529e-5
allele num: 11156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

DP
type: SiteQuality
SIO_000300: 1.410679e6

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 8.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

FS
type: SiteQuality
SIO_000300: 1.561e0

QD
type: SiteQuality
SIO_000300: 1.362e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
all individuals: 1055
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41867
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3389
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6095
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.626828719333784e-4
allele num: 8886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.789228842368939e-4
allele num: 11178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.617128626410945e-5
allele num: 61838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.93e-1

DP
type: SiteQuality
SIO_000300: 1.422343e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.393e0

GenotypeQuality
all individuals: 605
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 918
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
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variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6095
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.150061500615006e-5
allele num: 16260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.422343e6

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 7.93e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.393e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
all individuals: 525
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 829
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variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3324
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42201
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 152
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.228305785123967e-5
allele num: 61952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6054
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8946
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.149305128520478e-5
allele num: 16262
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.05e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

DP
type: SiteQuality
SIO_000300: 1.428548e6

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1398
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6268
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43191
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8262
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.925383791503035e-5
allele num: 11204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62224
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.77e-1

FS
type: SiteQuality
SIO_000300: 3.014e0

QD
type: SiteQuality
SIO_000300: 1.025e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.167e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.435247e6

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6060
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.210946960523129e-4
allele num: 8258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62246
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.437881e6

MQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.841e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

MQ
type: SiteQuality
SIO_000300: 5.838e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.127e1

GenotypeQuality
all individuals: 1404
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 608
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43481
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 326
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9018
num of homozygotes: 0

European (Finnish)
type: Population
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allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62338
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.209482341557813e-4
allele num: 8268
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.95e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.243e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

FS
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

DP
type: SiteQuality
SIO_000300: 1.44151e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.79e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9018
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.208315954955244e-5
allele num: 62338
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.919015340706386e-5
allele num: 11212
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
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FS
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VQSLOD
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DP
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-1

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.79e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9018
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.208315954955244e-5
allele num: 62338
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

BaseQRankSum
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SIO_000300: -1.341e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.243e1

MQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6090
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.195871761089152e-4
allele num: 9108
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62438
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.055e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

DP
type: SiteQuality
SIO_000300: 1.445667e6

FS
type: SiteQuality
SIO_000300: 4.244e0

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 2.262e1

VQSLOD
type: SiteQuality
SIO_000300: -1.086e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

South Asian
type: Population
allele count: 49
allele frequency: 2.997675272237856e-3
allele num: 16346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62562
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.78126113288208e-4
allele num: 11228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 1.450526e6

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 1.08695652173913e-4
allele num: 9200
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593727090173079e-5
allele num: 62746
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.452487e6

QD
type: SiteQuality
SIO_000300: 1.003e1

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-1

BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

FS
type: SiteQuality
SIO_000300: 4.234e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62280
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African
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East Asian
type: Population
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South Asian
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allele frequency: 6.09979260705136e-5
allele num: 16394
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Other
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allele num: 830
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MQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

VQSLOD
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MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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African
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European (Finnish)
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allele frequency: 1.99203187250996e-4
allele num: 5020
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South Asian
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Other
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allele num: 748
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European (Non-Finnish)
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allele frequency: 5.097013150293928e-5
allele num: 58858
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DP
type: SiteQuality
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

Latino
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South Asian
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allele num: 16374
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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QD
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MQ
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InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.203948952564411e-4
allele num: 8306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9136
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 1.433e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.244e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.595e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

DP
type: SiteQuality
SIO_000300: 1.448276e6

QD
type: SiteQuality
SIO_000300: 5.78e0

VQSLOD
type: SiteQuality
SIO_000300: -1.503e0

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.215434083601286e-5
allele num: 62200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.811e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 9.334099999999999e1

QD
type: SiteQuality
SIO_000300: 4.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.329e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e0

MQRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.752e0

VQSLOD
type: SiteQuality
SIO_000300: -4.568e1

DP
type: SiteQuality
SIO_000300: 1.439851e6

GenotypeQuality
all individuals: 6054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6066
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.218905472636816e-4
allele num: 11256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9132
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.442359e6

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: -3.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.453e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 160
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variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.594286078693961e-5
allele num: 62724
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.446378e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 9.692e0

VQSLOD
type: SiteQuality
SIO_000300: -7.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

QD
type: SiteQuality
SIO_000300: 1.024e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 155
bin: 4.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 516
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.59230597751664e-5
allele num: 62802
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

DP
type: SiteQuality
SIO_000300: 1.449573e6

FS
type: SiteQuality
SIO_000300: 3.267e0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.58e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

QD
type: SiteQuality
SIO_000300: 1.232e1

GenotypeQuality
all individuals: 6098
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
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GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.261578604044357e-4
allele num: 9198
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

DP
type: SiteQuality
SIO_000300: 1.449573e6

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 3.267e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.58e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 2676
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.58e-1

FS
type: SiteQuality
SIO_000300: 3.267e0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

DP
type: SiteQuality
SIO_000300: 1.449573e6

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588865232450984e-5
allele num: 62938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.845e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.011e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

DP
type: SiteQuality
SIO_000300: 1.453455e6

FS
type: SiteQuality
SIO_000300: 3.037e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 172
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 76
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 531
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 1183
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.166377816291161e-4
allele num: 9232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.196744853997128e-4
allele num: 8356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.587049674654817e-5
allele num: 63010
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

DP
type: SiteQuality
SIO_000300: 1.457911e6

FS
type: SiteQuality
SIO_000300: 1.914e0

MQ
type: SiteQuality
SIO_000300: 5.792e1

VQSLOD
type: SiteQuality
SIO_000300: -5.856e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

QD
type: SiteQuality
SIO_000300: 1.061e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-2

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583380834758376e-5
allele num: 63156
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
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MQRankSum
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SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.063e0

DP
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SIO_000300: 1.461074e6

FS
type: SiteQuality
SIO_000300: 5.751e0

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583380834758376e-5
allele num: 63156
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.063e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

FS
type: SiteQuality
SIO_000300: 5.751e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -5.288e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 1.461074e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.156566745740781e-4
allele num: 9274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

DP
type: SiteQuality
SIO_000300: 1.462463e6

MQ
type: SiteQuality
SIO_000300: 5.863e1

QD
type: SiteQuality
SIO_000300: 1.237e1

FS
type: SiteQuality
SIO_000300: 5.164e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.938e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.575944778894947e-5
allele num: 63454
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.192463629859289e-4
allele num: 8386
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.773364071643909e-4
allele num: 11278
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.33e1

FS
type: SiteQuality
SIO_000300: 7.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

DP
type: SiteQuality
SIO_000300: 1.467776e6

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63636
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.868393047179851e-5
allele num: 11276
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 6.075e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.42e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

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

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.57143755107172e-5
allele num: 63636
num of homozygotes: 0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.075e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.471302e6

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

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

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

European (Finnish)
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allele count: 0
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

South Asian
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allele count: 6
allele frequency: 3.64741641337386e-4
allele num: 16450
num of homozygotes: 0

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

African
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 854
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63904
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16450
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.561963075192902e-5
allele num: 64022
num of homozygotes: 0

QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

BaseQRankSum
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SIO_000300: 2.22e0

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 1.04887770086008e-4
allele num: 9534
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11288
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.121001217190475e-5
allele num: 64082
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-2

FS
type: SiteQuality
SIO_000300: 1.0579e1

InbreedingCoeff
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MQRankSum
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

QD
type: SiteQuality
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ClippingRankSum
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VQSLOD
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SIO_000300: -1.123e0

DP
type: SiteQuality
SIO_000300: 1.479927e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.117498519188203e-5
allele num: 64154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
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Latino
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.898e1

FS
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
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SIO_000300: 9.0e-4

VQSLOD
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DP
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QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -1.85e-1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.558749259594102e-5
allele num: 64154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6276
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 862
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MQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.898e1

QD
type: SiteQuality
SIO_000300: 9.93e0

DP
type: SiteQuality
SIO_000300: 1.481478e6

FS
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.59e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
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
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: 8422
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.552072016141549e-5
allele num: 64430
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.009e0

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.956e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.058e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.485872e6

MQRankSum
type: SiteQuality
SIO_000300: -9.64e-1

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 7
allele frequency: 1.086146971201589e-4
allele num: 64448
num of homozygotes: 0

East Asian
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African
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allele count: 3
allele frequency: 3.09981401115933e-4
allele num: 9678
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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FS
type: SiteQuality
SIO_000300: 3.8338e1

VQSLOD
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ReadPosRankSum
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
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SIO_000300: -3.06e0

ClippingRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQ
type: SiteQuality
SIO_000300: 5.697e1

QD
type: SiteQuality
SIO_000300: 6.0e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64716
num of homozygotes: 0

Latino
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South Asian
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allele frequency: 0.0e0
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African
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Other
type: Population
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East Asian
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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VQSLOD
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DP
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BaseQRankSum
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MQRankSum
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
type: Population
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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MQRankSum
type: SiteQuality
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FS
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64774
num of homozygotes: 0

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

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

South Asian
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allele frequency: 6.0790273556231e-5
allele num: 16450
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MQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.494066e6

BaseQRankSum
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SIO_000300: -3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e0

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
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SIO_000300: 5.959e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.123e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.649e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.541734759951898e-5
allele num: 64862
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.180637544273908e-4
allele num: 8470
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.6377e1

DP
type: SiteQuality
SIO_000300: 1.495336e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.331e0

VQSLOD
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SIO_000300: -2.209e0

MQRankSum
type: SiteQuality
SIO_000300: -1.55e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

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

European (Non-Finnish)
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allele count: 23
allele frequency: 3.537917243501e-4
allele num: 65010
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9924
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QD
type: SiteQuality
SIO_000300: 1.081e1

FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

DP
type: SiteQuality
SIO_000300: 1.498017e6

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.997e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65026
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.427292010370022e-4
allele num: 8486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

FS
type: SiteQuality
SIO_000300: 8.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 1.497163e6

QD
type: SiteQuality
SIO_000300: 1.121e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 6.16e0

VQSLOD
type: SiteQuality
SIO_000300: -7.000999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

FS
type: SiteQuality
SIO_000300: 2.708e0

DP
type: SiteQuality
SIO_000300: 1.497286e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.297e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16284
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.54320987654321e-5
allele num: 64800
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.243e0

ClippingRankSum
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SIO_000300: -1.59e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

ReadPosRankSum
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.841e0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549042691616581e-5
allele num: 64556
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11228
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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South Asian
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allele count: 0
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InbreedingCoeff
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SIO_000300: -4.0e-4

FS
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.678e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.027960526315789e-4
allele num: 9728
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.264094211976948e-5
allele num: 15964
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 2
allele frequency: 2.082899395959175e-4
allele num: 9602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.571289400081707e-5
allele num: 63642
num of homozygotes: 0

Latino
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allele count: 0
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QD
type: SiteQuality
SIO_000300: 1.195e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

FS
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.441949e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
all individuals: 240
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39043
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8690
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5215
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15600
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.492522432701894e-4
allele num: 8024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62278
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.357e-1

DP
type: SiteQuality
SIO_000300: 1.381064e6

FS
type: SiteQuality
SIO_000300: 2.329e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.669e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.35e0

GenotypeQuality
all individuals: 1933
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11024
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: 9578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.272738677706687e-5
allele num: 15942
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63758
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.494e0

QD
type: SiteQuality
SIO_000300: 1.045e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 9.313000000000001e0

DP
type: SiteQuality
SIO_000300: 1.47719e6

MQ
type: SiteQuality
SIO_000300: 5.899e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.06e-1

GenotypeQuality
all individuals: 41439
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64814
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.106876553438277e-4
allele num: 9656
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16128
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.334e0

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

DP
type: SiteQuality
SIO_000300: 1.497047e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.315e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.53e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e-1

GenotypeQuality
all individuals: 41978
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65270
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.032204789430223e-4
allele num: 9688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e0

VQSLOD
type: SiteQuality
SIO_000300: 2.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.553e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

DP
type: SiteQuality
SIO_000300: 1.5042e6

GenotypeQuality
all individuals: 2512
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.798169980644026e-5
allele num: 11366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
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: 6582
num of homozygotes: 0

African
type: Population
allele count: 97
allele frequency: 1.0e-2
allele num: 9700
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65360
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e-1

DP
type: SiteQuality
SIO_000300: 1.510336e6

QD
type: SiteQuality
SIO_000300: 1.46e1

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.046644121500167e-5
allele num: 65646
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.397e1

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.513362e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 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: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

QD
type: SiteQuality
SIO_000300: 1.475e1

DP
type: SiteQuality
SIO_000300: 1.531041e6

MQRankSum
type: SiteQuality
SIO_000300: -5.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.393e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2096
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002011347602894e-5
allele num: 66622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 9790
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

VQSLOD
type: SiteQuality
SIO_000300: 3.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.674e0

FS
type: SiteQuality
SIO_000300: 4.509e0

DP
type: SiteQuality
SIO_000300: 1.532106e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

QD
type: SiteQuality
SIO_000300: 1.473e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

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

African
type: Population
allele count: 3
allele frequency: 3.061224489795918e-4
allele num: 9800
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.78e-1

DP
type: SiteQuality
SIO_000300: 1.534285e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

QD
type: SiteQuality
SIO_000300: 1.604e1

GenotypeQuality
all individuals: 43252
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.943e0

FS
type: SiteQuality
SIO_000300: 1.109e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

MQRankSum
type: SiteQuality
SIO_000300: 7.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.31e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.534241e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.078e0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 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: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.592464569650881e-4
allele num: 11572
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.475e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.202e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 1.534538e6

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.798938626210536e-4
allele num: 66706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
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: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.381e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

DP
type: SiteQuality
SIO_000300: 1.535471e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.663e0

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.27e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998500749625187e-5
allele num: 66700
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.534544e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

QD
type: SiteQuality
SIO_000300: 1.003e1

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497751124437781e-5
allele num: 66700
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.534698e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 5.79e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 673
bin: 8.75e1
variant carriers: 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: 8626
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.475e0

DP
type: SiteQuality
SIO_000300: 1.534314e6

FS
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

QD
type: SiteQuality
SIO_000300: 1.311e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999130252226854e-5
allele num: 66686
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e0

FS
type: SiteQuality
SIO_000300: 2.307e0

DP
type: SiteQuality
SIO_000300: 1.534084e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

VQSLOD
type: SiteQuality
SIO_000300: -1.066e-1

GenotypeQuality
all individuals: 1833
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16064
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e0

FS
type: SiteQuality
SIO_000300: 7.759e0

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-2

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.49e0

DP
type: SiteQuality
SIO_000300: 1.527195e6

QD
type: SiteQuality
SIO_000300: 1.199e1