18-20832940-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20832940
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20832940
    reference: chr 18
allele count: 1
allele frequency: 8.291598951941893e-6
allele num: 120604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*7A>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33721T>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.668A>G
  hgvsp: ENSP00000413851.2:p.Tyr223Cys
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.482A>G
  hgvsp: ENSP00000383321.2:p.Tyr161Cys
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38232T>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1463A>G
  hgvsp: ENSP00000256925.7:p.Tyr488Cys
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4919A>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33721T>C
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr488Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

18-20832949-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20832949
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20832949
    reference: chr 18
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38241G>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33730G>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1472C>G
  hgvsp: ENSP00000256925.7:p.Pro491Arg
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33730G>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4910C>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.677C>G
  hgvsp: ENSP00000413851.2:p.Pro226Arg
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.491C>G
  hgvsp: ENSP00000383321.2:p.Pro164Arg
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*16C>G
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro491Arg
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

18-20832952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20832952
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20832952
    reference: chr 18
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33733G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1475C>T
  hgvsp: ENSP00000256925.7:p.Ser492Leu
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.680C>T
  hgvsp: ENSP00000413851.2:p.Ser227Leu
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33733G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38244G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.494C>T
  hgvsp: ENSP00000383321.2:p.Ser165Leu
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4907C>T
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser492Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

18-20832953-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20832953
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20832953
    reference: chr 18
allele count: 4
allele frequency: 3.314935441632274e-5
allele num: 120666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33734C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1476G>A
  hgvsp: ENST00000256925.7:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.495G>A
  hgvsp: ENST00000400473.2:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33734C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4906G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*20G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.681G>A
  hgvsp: ENST00000420687.2:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38245C>T
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5979
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser492Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

18-20832958-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20832958
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20832957
    reference: chr 18
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4900delC
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1482delC
  hgvsp: ENSP00000256925.7:p.Lys495ArgfsTer4
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.687delC
  hgvsp: ENSP00000413851.2:p.Lys230ArgfsTer4
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38251delG
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*26delC
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33740delG
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.501delC
  hgvsp: ENSP00000383321.2:p.Lys168ArgfsTer4
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33740delG
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys495ArgfsTer4
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: TC
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

18-20832974-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20832974
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20832974
    reference: chr 18
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.516C>T
  hgvsp: ENST00000400473.2:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33755G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4885C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1497C>T
  hgvsp: ENST00000256925.7:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33755G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38266G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.702C>T
  hgvsp: ENST00000420687.2:c.702C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*41C>T
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn499Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

18-20832975-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20832975
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20832975
    reference: chr 18
allele count: 1
allele frequency: 8.285004142502071e-6
allele num: 120700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*42G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.703G>A
  hgvsp: ENSP00000413851.2:p.Glu235Lys
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38267C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4884G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33756C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.517G>A
  hgvsp: ENSP00000383321.2:p.Glu173Lys
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33756C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1498G>A
  hgvsp: ENSP00000256925.7:p.Glu500Lys
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu500Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/18-20832988-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20832988
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20832988
    reference: chr 18
allele count: 1
allele frequency: 8.290086714307032e-6
allele num: 120626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4871A>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33769T>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.716A>C
  hgvsp: ENSP00000413851.2:p.Glu239Ala
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38280T>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33769T>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.530A>C
  hgvsp: ENSP00000383321.2:p.Glu177Ala
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1511A>C
  hgvsp: ENSP00000256925.7:p.Glu504Ala
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*55A>C
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu504Ala
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

18-20832997-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20832997
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20832997
    reference: chr 18
allele count: 1
allele frequency: 8.296138976920141e-6
allele num: 120538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.725C>T
  hgvsp: ENSP00000413851.2:p.Pro242Leu
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1520C>T
  hgvsp: ENSP00000256925.7:p.Pro507Leu
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33778G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*64C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.539C>T
  hgvsp: ENSP00000383321.2:p.Pro180Leu
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4862C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33778G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38289G>A
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro507Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

18-20833010-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833010
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833010
    reference: chr 18
allele count: 1
allele frequency: 8.318360284820657e-6
allele num: 120216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.552G>C
  hgvsp: ENST00000400473.2:c.552G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38302C>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4849G>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*77G>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1533G>C
  hgvsp: ENST00000256925.7:c.1533G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33791C>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.738G>C
  hgvsp: ENST00000420687.2:c.738G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33791C>G
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu511Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

18-20833028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833028
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833028
    reference: chr 18
allele count: 2
allele frequency: 1.686568171085475e-5
allele num: 118584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33809C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4831G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.756G>A
  hgvsp: ENST00000420687.2:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33809C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*95G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38320C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1551G>A
  hgvsp: ENST00000256925.7:c.1551G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.570G>A
  hgvsp: ENST00000400473.2:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17398
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1551G>A
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-20833031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833031
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833031
    reference: chr 18
allele count: 1
allele frequency: 8.434832484226864e-6
allele num: 118556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38323C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33812C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*97+1G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1553+1G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4828G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.758+1G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33812C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.572+1G>A
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17480
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1553+1G>A
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

18-20833034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833034
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833034
    reference: chr 18
allele count: 150
allele frequency: 1.270346719964769e-3
allele num: 118078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.572+4C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38326G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4825C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1553+4C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.758+4C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*97+4C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33815G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33815G>A
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28509
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17120
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 3.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 9.75e1
  variant carriers: 144
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1553+4C>T
num of homozygotes: 3
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

18-20833035-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833035
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833035
    reference: chr 18
allele count: 1
allele frequency: 8.487379267029927e-6
allele num: 117822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33816C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.758+5G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.572+5G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4824G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1553+5G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*97+5G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38327C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33816C>T
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5362
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1553+5G>A
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

18-20833049-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833049
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833049
    reference: chr 18
allele count: 1
allele frequency: 8.676789587852495e-6
allele num: 115250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33830C>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*97+19G>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.758+19G>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1553+19G>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33830C>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.572+19G>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4810G>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38341C>A
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

18-20833061-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833061
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833061
    reference: chr 18
allele count: 1
allele frequency: 8.826904404625297e-6
allele num: 113290
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1553+31T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4798T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.758+31T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33842A>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*97+31T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38353A>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.572+31T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33842A>G
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11454
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6073
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4381
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum

18-20833070-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833070
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833070
    reference: chr 18
allele count: 1
allele frequency: 9.042572431005172e-6
allele num: 110588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.572+40A>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1553+40A>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38362T>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.758+40A>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33851T>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33851T>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4789A>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*97+40A>G
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

18-20833076-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833076
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833076
    reference: chr 18
allele count: 1
allele frequency: 9.212514279397133e-6
allele num: 108548
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33857G>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1553+46C>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.572+46C>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.758+46C>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4783C>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33857G>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*97+46C>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38368G>C
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

18-20833078-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833078
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833078
    reference: chr 18
allele count: 1
allele frequency: 9.254803242883057e-6
allele num: 108052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4781T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33859A>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1553+48T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33859A>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.758+48T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*97+48T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.572+48T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38370A>G
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11346
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4305
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10504
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

18-20833081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833081
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833081
    reference: chr 18
allele count: 1
allele frequency: 9.427558639414738e-6
allele num: 106072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-33862G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*97+51C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.572+51C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1553+51C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.758+51C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-33862G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4778C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38373G>A
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11646
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5198
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

18-20833646-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833646
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833644
    reference: chr 18
allele count: 1
allele frequency: 1.117343404321884e-5
allele num: 89498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*98-44_*98-43delCT
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38940_252-38939delAG
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34429_*633-34428delAG
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4210_340-4209delCT
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.759-44_759-43delCT
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34429_*-34428delAG
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.573-44_573-43delCT
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1554-44_1554-43delCT
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9875
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7466
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: ACT
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

18-20833648-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833648
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833648
    reference: chr 18
allele count: 2
allele frequency: 2.228114346828279e-5
allele num: 89762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.573-45T>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1554-45T>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.759-45T>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4211T>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34429A>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34429A>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*98-45T>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38940A>T
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20580
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7435
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8704
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

18-20833649-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833649
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833650
    reference: chr 18
allele count: 8
allele frequency: 8.925981300069176e-5
allele num: 89626
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*98-43dupT
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.573-43dupT
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.759-43dupT
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4209dupT
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34431dupA
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34431dupA
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38942dupA
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1554-43dupT
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20490
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8656
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

18-20833649-CTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833649
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833647
    reference: chr 18
allele count: 1
allele frequency: 1.115747662508647e-5
allele num: 89626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.759-43_759-42delTA
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34432_*-34431delTA
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1554-43_1554-42delTA
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*98-43_*98-42delTA
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34432_*633-34431delTA
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4209_340-4208delTA
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38943_252-38942delTA
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.573-43_573-42delTA
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: CTA
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

18-20833651-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833651
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833651
    reference: chr 18
allele count: 1
allele frequency: 1.111679302754741e-5
allele num: 89954
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34432T>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1554-42A>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.573-42A>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38943T>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.759-42A>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*98-42A>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34432T>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4208A>G
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8643
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7240
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

18-20833655-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833655
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833656
    reference: chr 18
allele count: 1
allele frequency: 1.103119622291841e-5
allele num: 90652
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34437_*633-34436insT
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4204_340-4203insA
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*98-38_*98-37insA
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1554-38_1554-37insA
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38948_252-38947insT
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.573-38_573-37insA
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.759-38_759-37insA
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34437_*-34436insT
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5082
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-20833665-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833665
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833666
    reference: chr 18
allele count: 1
allele frequency: 1.070572113737581e-5
allele num: 93408
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4193dupT
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.759-27dupT
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*98-27dupT
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34447dupA
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38958dupA
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.573-27dupT
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1554-27dupT
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34447dupA
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20998
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6380
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

18-20833674-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833674
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833674
    reference: chr 18
allele count: 1
allele frequency: 1.002144589421362e-5
allele num: 99786
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.759-19C>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1554-19C>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38966G>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34455G>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4185C>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*98-19C>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.573-19C>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34455G>C
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29799
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

18-20833683-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833683
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833682
    reference: chr 18
allele count: 1
allele frequency: 9.286085729143452e-6
allele num: 107688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.759-7delT
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.573-7delT
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4173delT
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*98-7delT
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34465delA
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38976delA
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34465delA
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1554-7delT
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: CT
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

18-20833694-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833694
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833694
    reference: chr 18
allele count: 38
allele frequency: 3.334386297427258e-4
allele num: 113964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34475G>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.574C>G
  hgvsp: ENSP00000383321.2:p.Leu192Val
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34475G>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1555C>G
  hgvsp: ENSP00000256925.7:p.Leu519Val
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38986G>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4165C>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.760C>G
  hgvsp: ENSP00000413851.2:p.Leu254Val
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*99C>G
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9854
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40102
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu519Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-20833700-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833700
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833700
    reference: chr 18
allele count: 5
allele frequency: 4.307596877853783e-5
allele num: 116074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38992G>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*105C>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1561C>A
  hgvsp: ENST00000256925.7:c.1561C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4159C>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.766C>A
  hgvsp: ENST00000420687.2:c.766C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34481G>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.580C>A
  hgvsp: ENST00000400473.2:c.580C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34481G>T
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10510
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg521Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

18-20833700-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833700
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833700
    reference: chr 18
allele count: 1
allele frequency: 8.615193755707565e-6
allele num: 116074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.580C>G
  hgvsp: ENSP00000383321.2:p.Arg194Gly
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38992G>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*105C>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1561C>G
  hgvsp: ENSP00000256925.7:p.Arg521Gly
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34481G>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4159C>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.766C>G
  hgvsp: ENSP00000413851.2:p.Arg256Gly
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34481G>C
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg521Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

18-20833701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833701
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833701
    reference: chr 18
allele count: 1
allele frequency: 8.58619682997613e-6
allele num: 116466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34482C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34482C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4158G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*106G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.581G>A
  hgvsp: ENSP00000383321.2:p.Arg194Gln
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1562G>A
  hgvsp: ENSP00000256925.7:p.Arg521Gln
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.767G>A
  hgvsp: ENSP00000413851.2:p.Arg256Gln
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-38993C>T
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45586
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg521Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

18-20833709-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833709
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833709
    reference: chr 18
allele count: 3
allele frequency: 2.546300225771953e-5
allele num: 117818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.589C>T
  hgvsp: ENSP00000383321.2:p.Arg197Trp
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34490G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.775C>T
  hgvsp: ENSP00000413851.2:p.Arg259Trp
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39001G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4150C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1570C>T
  hgvsp: ENSP00000256925.7:p.Arg524Trp
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34490G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*114C>T
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41163
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg524Trp
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

18-20833710-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833710
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833710
    reference: chr 18
allele count: 15
allele frequency: 1.270626503574696e-4
allele num: 118052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39002C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34491C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1571G>A
  hgvsp: ENSP00000256925.7:p.Arg524Gln
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.776G>A
  hgvsp: ENSP00000413851.2:p.Arg259Gln
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4149G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.590G>A
  hgvsp: ENSP00000383321.2:p.Arg197Gln
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34491C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*115G>A
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11592
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg524Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

18-20833720-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833720
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833720
    reference: chr 18
allele count: 4
allele frequency: 3.358127508101483e-5
allele num: 119114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34501C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34501C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.786G>A
  hgvsp: ENST00000420687.2:c.786G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*125G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4139G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1581G>A
  hgvsp: ENST00000256925.7:c.1581G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.600G>A
  hgvsp: ENST00000400473.2:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39012C>T
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala527Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

18-20833720-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833720
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833720
    reference: chr 18
allele count: 1
allele frequency: 8.395318770253707e-6
allele num: 119114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34501C>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*125G>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1581G>T
  hgvsp: ENST00000256925.7:c.1581G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34501C>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4139G>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39012C>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.600G>T
  hgvsp: ENST00000400473.2:c.600G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.786G>T
  hgvsp: ENST00000420687.2:c.786G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12190
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala527Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

18-20833727-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833727
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833727
    reference: chr 18
allele count: 5
allele frequency: 4.182910301671491e-5
allele num: 119534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39019C>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4132G>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1588G>C
  hgvsp: ENSP00000256925.7:p.Asp530His
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34508C>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*132G>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34508C>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.607G>C
  hgvsp: ENSP00000383321.2:p.Asp203His
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.793G>C
  hgvsp: ENSP00000413851.2:p.Asp265His
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41203
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4956
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp530His
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ

18-20833738-TGAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833738
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833735
    reference: chr 18
allele count: 1
allele frequency: 8.346688034188035e-6
allele num: 119808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34522_*633-34520delCTC
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.622_624delGAG
  hgvsp: ENSP00000383321.2:p.Glu208del
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*147_*149delGAG
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1603_1605delGAG
  hgvsp: ENSP00000256925.7:p.Glu535del
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4117_340-4115delGAG
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39033_252-39031delCTC
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.808_810delGAG
  hgvsp: ENSP00000413851.2:p.Glu270del
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34522_*-34520delCTC
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu535del
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: TGAG
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

18-20833747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833747
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833747
    reference: chr 18
allele count: 1
allele frequency: 8.335834083558401e-6
allele num: 119964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4112C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.627C>T
  hgvsp: ENST00000400473.2:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.813C>T
  hgvsp: ENST00000420687.2:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1608C>T
  hgvsp: ENST00000256925.7:c.1608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39039G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34528G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*152C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34528G>A
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro536Pro
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

18-20833749-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833749
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833748
    reference: chr 18
allele count: 1
allele frequency: 8.331805835596807e-6
allele num: 120022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*156delG
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.631delG
  hgvsp: ENSP00000383321.2:p.Val211TrpfsTer32
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1612delG
  hgvsp: ENSP00000256925.7:p.Val538TrpfsTer32
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4108delG
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.817delG
  hgvsp: ENSP00000413851.2:p.Val273TrpfsTer32
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39042delC
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34531delC
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34531delC
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val538TrpfsTer32
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: CG
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

18-20833757-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833757
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833757
    reference: chr 18
allele count: 3
allele frequency: 2.496297159213833e-5
allele num: 120178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39049T>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*162A>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1618A>G
  hgvsp: ENSP00000256925.7:p.Met540Val
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.823A>G
  hgvsp: ENSP00000413851.2:p.Met275Val
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.637A>G
  hgvsp: ENSP00000383321.2:p.Met213Val
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34538T>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34538T>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4102A>G
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met540Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

18-20833765-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833765
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833765
    reference: chr 18
allele count: 100
allele frequency: 8.317668391196579e-4
allele num: 120226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.831C>T
  hgvsp: ENST00000420687.2:c.831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*170C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34546G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34546G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.645C>T
  hgvsp: ENST00000400473.2:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4094C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39057G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1626C>T
  hgvsp: ENST00000256925.7:c.1626C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13871
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 39817
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 9.75e1
  variant carriers: 100
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe542Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

18-20833766-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833766
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833766
    reference: chr 18
allele count: 14
allele frequency: 1.164163714680104e-4
allele num: 120258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.832G>A
  hgvsp: ENSP00000413851.2:p.Val278Ile
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4093G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.646G>A
  hgvsp: ENSP00000383321.2:p.Val216Ile
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*171G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34547C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1627G>A
  hgvsp: ENSP00000256925.7:p.Val543Ile
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34547C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39058C>T
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val543Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

18-20833776-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833776
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833776
    reference: chr 18
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39068T>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.842A>G
  hgvsp: ENSP00000413851.2:p.Glu281Gly
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34557T>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1637A>G
  hgvsp: ENSP00000256925.7:p.Glu546Gly
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4083A>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*181A>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.656A>G
  hgvsp: ENSP00000383321.2:p.Glu219Gly
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34557T>C
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu546Gly
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

18-20833783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833783
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833783
    reference: chr 18
allele count: 3
allele frequency: 2.491859924247458e-5
allele num: 120392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.663C>T
  hgvsp: ENST00000400473.2:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1644C>T
  hgvsp: ENST00000256925.7:c.1644C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4076C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*188C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39075G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34564G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34564G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.849C>T
  hgvsp: ENST00000420687.2:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu548Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

18-20833784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833784
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833784
    reference: chr 18
allele count: 18
allele frequency: 1.49494211251931e-4
allele num: 120406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.664G>A
  hgvsp: ENSP00000383321.2:p.Ala222Thr
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*189G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39076C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1645G>A
  hgvsp: ENSP00000256925.7:p.Ala549Thr
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4075G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.850G>A
  hgvsp: ENSP00000413851.2:p.Ala284Thr
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34565C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34565C>T
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39698
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 48802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala549Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

18-20833821-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833821
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833821
    reference: chr 18
allele count: 3
allele frequency: 2.492812390939458e-5
allele num: 120346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*226T>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4038T>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34602A>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1682T>A
  hgvsp: ENSP00000256925.7:p.Leu561Gln
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34602A>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.887T>A
  hgvsp: ENSP00000413851.2:p.Leu296Gln
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39113A>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.701T>A
  hgvsp: ENSP00000383321.2:p.Leu234Gln
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu561Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

18-20833821-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833821
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833821
    reference: chr 18
allele count: 1
allele frequency: 8.30937463646486e-6
allele num: 120346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.887T>C
  hgvsp: ENSP00000413851.2:p.Leu296Pro
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1682T>C
  hgvsp: ENSP00000256925.7:p.Leu561Pro
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*226T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39113A>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.701T>C
  hgvsp: ENSP00000383321.2:p.Leu234Pro
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34602A>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4038T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34602A>G
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu561Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

18-20833824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833824
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833824
    reference: chr 18
allele count: 1
allele frequency: 8.310203267571925e-6
allele num: 120334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.704G>A
  hgvsp: ENSP00000383321.2:p.Cys235Tyr
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34605C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4035G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1685G>A
  hgvsp: ENSP00000256925.7:p.Cys562Tyr
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*229G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.890G>A
  hgvsp: ENSP00000413851.2:p.Cys297Tyr
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34605C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39116C>T
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys562Tyr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

18-20833826-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833826
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833826
    reference: chr 18
allele count: 1
allele frequency: 8.311170212765958e-6
allele num: 120320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4033G>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.706G>T
  hgvsp: ENSP00000383321.2:p.Ala236Ser
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.892G>T
  hgvsp: ENSP00000413851.2:p.Ala298Ser
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39118C>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1687G>T
  hgvsp: ENSP00000256925.7:p.Ala563Ser
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*231G>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34607C>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34607C>A
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala563Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

18-20833831-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833831
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833831
    reference: chr 18
allele count: 1
allele frequency: 8.314348903337379e-6
allele num: 120274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.711G>C
  hgvsp: ENST00000400473.2:c.711G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34612C>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1692G>C
  hgvsp: ENST00000256925.7:c.1692G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*236G>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.897G>C
  hgvsp: ENST00000420687.2:c.897G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39123C>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4028G>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34612C>G
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly564Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

18-20833832-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833832
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833832
    reference: chr 18
allele count: 1
allele frequency: 8.314487162431821e-6
allele num: 120272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.712G>T
  hgvsp: ENSP00000383321.2:p.Ala238Ser
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39124C>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4027G>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*237G>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34613C>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.898G>T
  hgvsp: ENSP00000413851.2:p.Ala300Ser
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1693G>T
  hgvsp: ENSP00000256925.7:p.Ala565Ser
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34613C>A
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala565Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

18-20833834-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833834
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833834
    reference: chr 18
allele count: 1
allele frequency: 8.315178526882972e-6
allele num: 120262
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1695A>G
  hgvsp: ENST00000256925.7:c.1695A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.900A>G
  hgvsp: ENST00000420687.2:c.900A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34615T>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34615T>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39126T>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4025A>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*239A>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.714A>G
  hgvsp: ENST00000400473.2:c.714A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala565Ala
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

18-20833840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833840
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833840
    reference: chr 18
allele count: 4
allele frequency: 3.328451604313673e-5
allele num: 120176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.720G>A
  hgvsp: ENST00000400473.2:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34621C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4019G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34621C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39132C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.906G>A
  hgvsp: ENST00000420687.2:c.906G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1701G>A
  hgvsp: ENST00000256925.7:c.1701G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*245G>A
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Val567Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

18-20833843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833843
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833843
    reference: chr 18
allele count: 3
allele frequency: 2.496587996404913e-5
allele num: 120164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34624C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.909G>A
  hgvsp: ENST00000420687.2:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1704G>A
  hgvsp: ENST00000256925.7:c.1704G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.723G>A
  hgvsp: ENST00000400473.2:c.723G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*248G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34624C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4016G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39135C>T
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 49224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu568Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

18-20833847-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833847
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833847
    reference: chr 18
allele count: 1
allele frequency: 8.324731111185109e-6
allele num: 120124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34628C>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39139C>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.913G>T
  hgvsp: ENSP00000413851.2:p.Ala305Ser
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4012G>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*252G>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1708G>T
  hgvsp: ENSP00000256925.7:p.Ala570Ser
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34628C>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.727G>T
  hgvsp: ENSP00000383321.2:p.Ala243Ser
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala570Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

18-20833852-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833852
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833852
    reference: chr 18
allele count: 1
allele frequency: 8.330001332800213e-6
allele num: 120048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34633G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-4007C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*257C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.918C>T
  hgvsp: ENST00000420687.2:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1713C>T
  hgvsp: ENST00000256925.7:c.1713C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.732C>T
  hgvsp: ENST00000400473.2:c.732C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39144G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34633G>A
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala571Ala
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-20833879-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833879
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833879
    reference: chr 18
allele count: 15
allele frequency: 1.253614588730841e-4
allele num: 119654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-3980C>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34660G>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1740C>G
  hgvsp: ENSP00000256925.7:p.His580Gln
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*284C>G
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39171G>C
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.945C>G
  hgvsp: ENSP00000413851.2:p.His315Gln
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.759C>G
  hgvsp: ENSP00000383321.2:p.His253Gln
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34660G>C
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His580Gln
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

18-20833879-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833879
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833879
    reference: chr 18
allele count: 1
allele frequency: 8.357430591538938e-6
allele num: 119654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.945C>T
  hgvsp: ENST00000420687.2:c.945C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-3980C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.759C>T
  hgvsp: ENST00000400473.2:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1740C>T
  hgvsp: ENST00000256925.7:c.1740C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34660G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*284C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34660G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39171G>A
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His580His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

18-20833880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833880
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833880
    reference: chr 18
allele count: 3
allele frequency: 2.507271086149834e-5
allele num: 119652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.760G>A
  hgvsp: ENSP00000383321.2:p.Glu254Lys
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*285G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.946G>A
  hgvsp: ENSP00000413851.2:p.Glu316Lys
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1741G>A
  hgvsp: ENSP00000256925.7:p.Glu581Lys
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-3979G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34661C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34661C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39172C>T
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu581Lys
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-20833880-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833880
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833880
    reference: chr 18
allele count: 1
allele frequency: 8.357570287166115e-6
allele num: 119652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39172C>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.946G>T
  hgvsp: ENSP00000413851.2:p.Glu316Ter
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-3979G>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1741G>T
  hgvsp: ENSP00000256925.7:p.Glu581Ter
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*285G>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34661C>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.760G>T
  hgvsp: ENSP00000383321.2:p.Glu254Ter
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34661C>A
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu581Ter
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

18-20833908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833908
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833908
    reference: chr 18
allele count: 2
allele frequency: 1.692391010018955e-5
allele num: 118176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39200C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.966+8G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.780+8G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-3951G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1761+8G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34689C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*305+8G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34689C>T
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1761+8G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

18-20833914-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833914
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833914
    reference: chr 18
allele count: 1
allele frequency: 8.499787505312367e-6
allele num: 117650
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.780+14T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*305+14T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1761+14T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34695A>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-3945T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34695A>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.966+14T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39206A>G
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

18-20833916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833916
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833916
    reference: chr 18
allele count: 2
allele frequency: 1.702736297229648e-5
allele num: 117458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34697G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-3943C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*305+16C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34697G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.966+16C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39208G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1761+16C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.780+16C>T
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

18-20833917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833917
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833917
    reference: chr 18
allele count: 2
allele frequency: 1.705029838022165e-5
allele num: 117300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34698G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.780+17C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34698G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39209G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-3942C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*305+17C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.966+17C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1761+17C>T
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4534
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

18-20833919-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833919
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833919
    reference: chr 18
allele count: 1
allele frequency: 8.542919628212137e-6
allele num: 117056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.780+19G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34700C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39211C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-3940G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*305+19G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.966+19G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34700C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1761+19G>A
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

18-20833920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833920
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833920
    reference: chr 18
allele count: 2
allele frequency: 1.708233686368295e-5
allele num: 117080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.780+20G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34701C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.966+20G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39212C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1761+20G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34701C>T
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*305+20G>A
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-3939G>A
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

18-20833924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833924
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833924
    reference: chr 18
allele count: 2
allele frequency: 1.712182176183546e-5
allele num: 116810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.966+24C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.780+24C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-3935C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34705G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1761+24C>T
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34705G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39216G>A
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*305+24C>T
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

18-20833925-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833925
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833925
    reference: chr 18
allele count: 1
allele frequency: 8.566044200788075e-6
allele num: 116740
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.780+25T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1761+25T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39217A>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34706A>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34706A>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-3934T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.966+25T>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*305+25T>C
  variant of: http://identifiers.org/hgnc/25097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40997
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

18-20833930-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20833930
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 20833930
    reference: chr 18
allele count: 2
allele frequency: 1.719897494109351e-5
allele num: 116286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000413851
  ensembl transcript: ENST00000420687
  gene symbol: CABLES1
  hgvsc: ENST00000420687.2:c.966+30G>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000464435
  ensembl transcript: ENST00000579963
  gene symbol: CABLES1
  hgvsc: ENST00000579963.1:c.*305+30G>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000383321
  ensembl transcript: ENST00000400473
  gene symbol: CABLES1
  hgvsc: ENST00000400473.2:c.780+30G>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl protein: ENSP00000256925
  ensembl transcript: ENST00000256925
  gene symbol: CABLES1
  hgvsc: ENST00000256925.7:c.1761+30G>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000462199
  ensembl transcript: ENST00000581444
  gene symbol: TMEM241
  hgvsc: ENST00000581444.1:c.*633-34711C>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl transcript: ENST00000578790
  gene symbol: TMEM241
  hgvsc: ENST00000578790.1:n.252-39222C>G
  variant of: http://identifiers.org/hgnc/31723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134508
  ensembl transcript: ENST00000585061
  gene symbol: CABLES1
  hgvsc: ENST00000585061.1:n.340-3929G>C
  variant of: http://identifiers.org/hgnc/25097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134490
  ensembl protein: ENSP00000414899
  ensembl transcript: ENST00000450466
  gene symbol: TMEM241
  hgvsc: ENST00000450466.2:c.*-34711C>G
  variant of: http://identifiers.org/hgnc/31723
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 269
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46874
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5976
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2924
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.94e-1

DP
type: SiteQuality
SIO_000300: 1.590266e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.81e-1

QD
type: SiteQuality
SIO_000300: 1.493e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.017708121310808e-4
allele num: 9826
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

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.591505e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.401e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 5.905e1

QD
type: SiteQuality
SIO_000300: 1.074e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 9.25e1
variant carriers: 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: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.249e1

FS
type: SiteQuality
SIO_000300: 1.661e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.7e-1

DP
type: SiteQuality
SIO_000300: 1.59213e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.422e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2926
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.461405330564209e-4
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
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: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.139e0

MQRankSum
type: SiteQuality
SIO_000300: 8.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

DP
type: SiteQuality
SIO_000300: 1.592338e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

QD
type: SiteQuality
SIO_000300: 1.201e1

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 770
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variant carriers: 0

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

GenotypeQuality
all individuals: 1400
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GenotypeQuality
all individuals: 47000
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9838
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.067e1

DP
type: SiteQuality
SIO_000300: 1.592384e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.178e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9838
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: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.592674e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: -1.533e0

FS
type: SiteQuality
SIO_000300: 2.209e0

MQ
type: SiteQuality
SIO_000300: 5.701e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQRankSum
type: SiteQuality
SIO_000300: -1.586e0

QD
type: SiteQuality
SIO_000300: 1.26e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.59256e6

MQRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.566e-1

QD
type: SiteQuality
SIO_000300: 2.092e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.428e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

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

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: 11540
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
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: 8628
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.188e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.453e0

DP
type: SiteQuality
SIO_000300: 1.591438e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 3.465e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 8.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.149e0

FS
type: SiteQuality
SIO_000300: 7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 1.589826e6

GenotypeQuality
all individuals: 758
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 46195
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GenotypeQuality
all individuals: 1373
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.110975311659741e-5
allele num: 16364
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.724e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

MQ
type: SiteQuality
SIO_000300: 5.869e1

QD
type: SiteQuality
SIO_000300: 1.279e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-2

DP
type: SiteQuality
SIO_000300: 1.584562e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 366
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.357934449422306e-4
allele num: 8482
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65828
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.56e-1

DP
type: SiteQuality
SIO_000300: 1.548447e6

FS
type: SiteQuality
SIO_000300: 1.419e0

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.29e-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
all individuals: 1328
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.238303181534623e-5
allele num: 16030
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65818
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.308e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.065e0

QD
type: SiteQuality
SIO_000300: 1.175e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.401e0

FS
type: SiteQuality
SIO_000300: 9.455e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

DP
type: SiteQuality
SIO_000300: 1.548104e6

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
all individuals: 290
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.165501165501166e-3
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 135
allele frequency: 8.463949843260187e-3
allele num: 15950
num of homozygotes: 3

African
type: Population
allele count: 1
allele frequency: 1.053296819043606e-4
allele num: 9494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.877840909090909e-5
allele num: 11264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.098862562132162e-5
allele num: 65586
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.485416172634575e-4
allele num: 8434
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

DP
type: SiteQuality
SIO_000300: 1.53711e6

VQSLOD
type: SiteQuality
SIO_000300: 5.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

QD
type: SiteQuality
SIO_000300: 1.364e1

GenotypeQuality
all individuals: 332
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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
all individuals: 197
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.286145335680161e-5
allele num: 15908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65466
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.276e1

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 3.452e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

DP
type: SiteQuality
SIO_000300: 1.530378e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10928
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.420958006934635e-5
allele num: 15574
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -3.32e-2

QD
type: SiteQuality
SIO_000300: 1.071e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.197e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.362e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.429376e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.384384384384384e-5
allele num: 10656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9110
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South Asian
type: Population
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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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.67e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.99e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.55e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8882
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.619118551860367e-5
allele num: 61762
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7724
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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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variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.648967746190884e-5
allele num: 60644
num of homozygotes: 0

Other
type: Population
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allele num: 780
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African
type: Population
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allele frequency: 0.0e0
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South Asian
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East Asian
type: Population
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MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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SIO_000300: 1.023e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 1.655300271469245e-5
allele num: 60412
num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 786
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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

InbreedingCoeff
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QD
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MQ
type: SiteQuality
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BaseQRankSum
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SIO_000300: 3.59e0

MQRankSum
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SIO_000300: 5.37e-1

FS
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VQSLOD
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ClippingRankSum
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DP
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SIO_000300: 1.198325e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.684125433662299e-5
allele num: 59378
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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African
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allele num: 7542
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 4506
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Latino
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allele frequency: 0.0e0
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Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
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SIO_000300: -3.9e-3

FS
type: SiteQuality
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QD
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BaseQRankSum
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MQ
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VQSLOD
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MQRankSum
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ClippingRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

South Asian
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European (Non-Finnish)
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allele num: 49616
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African
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European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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FS
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.555e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

ClippingRankSum
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.1845e5

VQSLOD
type: SiteQuality
SIO_000300: 6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 1.008959560900799e-4
allele num: 49556
num of homozygotes: 0

Other
type: Population
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allele num: 664
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Latino
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allele count: 2
allele frequency: 2.58732212160414e-4
allele num: 7730
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 1.322051824431518e-4
allele num: 7564
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4494
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 7564
num of homozygotes: 0

South Asian
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Other
type: Population
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allele num: 664
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.017919121801598e-5
allele num: 49556
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6092
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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European (Non-Finnish)
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allele frequency: 2.011991469156171e-5
allele num: 49702
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Other
type: Population
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Latino
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

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

European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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Latino
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allele num: 8136
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Other
type: Population
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BaseQRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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Latino
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Other
type: Population
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allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55398
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.968641114982578e-5
allele num: 14350
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.172647e6

MQRankSum
type: SiteQuality
SIO_000300: 8.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 1.2409e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.707e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

QD
type: SiteQuality
SIO_000300: 2.818e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15106
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.330494944119212e-4
allele num: 7516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59874
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.281343e6

MQ
type: SiteQuality
SIO_000300: 5.985e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.268e0

FS
type: SiteQuality
SIO_000300: 1.864e0

QD
type: SiteQuality
SIO_000300: 7.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-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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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.842638658559057e-4
allele num: 10854
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.072731173567904e-4
allele num: 9322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 35
allele frequency: 5.525908617259781e-4
allele num: 63338
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

QD
type: SiteQuality
SIO_000300: 1.391e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.359808e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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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: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.130086390384374e-4
allele num: 15974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.28e1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.386195e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

FS
type: SiteQuality
SIO_000300: 8.227e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e-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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variant carriers: 1

GenotypeQuality
all individuals: 320
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variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55269859014968e-5
allele num: 64404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
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: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.28e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

DP
type: SiteQuality
SIO_000300: 1.386195e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

FS
type: SiteQuality
SIO_000300: 8.227e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547077570469383e-5
allele num: 64638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.392025e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.605e0

VQSLOD
type: SiteQuality
SIO_000300: -8.861e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.040799333888426e-4
allele num: 9608
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.852691218130312e-5
allele num: 11296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531159087429184e-5
allele num: 65310
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.8e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 1
allele frequency: 1.039068994181214e-4
allele num: 9624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 6
allele frequency: 9.173470323823502e-5
allele num: 65406
num of homozygotes: 0

East Asian
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allele count: 8
allele frequency: 9.523809523809524e-4
allele num: 8400
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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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variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.222942399412988e-4
allele num: 16354
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8480
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African
type: Population
allele count: 2
allele frequency: 2.06058108386565e-4
allele num: 9706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

BaseQRankSum
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MQ
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
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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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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.179245283018868e-4
allele num: 8480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65900
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.430844e6

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

QD
type: SiteQuality
SIO_000300: 1.251e1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-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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bin: 7.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.565212128548084e-5
allele num: 66092
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.54e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.083e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.436345e6

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510209012927389e-5
allele num: 66216
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.43e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.442069e6

QD
type: SiteQuality
SIO_000300: 1.555e1

FS
type: SiteQuality
SIO_000300: 9.313000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.739e1

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66300
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.532332209623046e-4
allele num: 6526
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.485e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.041e0

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

QD
type: SiteQuality
SIO_000300: 8.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

DP
type: SiteQuality
SIO_000300: 1.445785e6

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507704369327262e-5
allele num: 66326
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.082e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 7.924e0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

DP
type: SiteQuality
SIO_000300: 1.447334e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012229652388698e-5
allele num: 66396
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.023751023751024e-4
allele num: 9768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-1

ClippingRankSum
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ReadPosRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.450366e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

FS
type: SiteQuality
SIO_000300: 2.928e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

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

South Asian
type: Population
allele count: 100
allele frequency: 6.070171178827243e-3
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

MQRankSum
type: SiteQuality
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QD
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.987e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

DP
type: SiteQuality
SIO_000300: 1.459624e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
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allele count: 8
allele frequency: 6.938421509106678e-4
allele num: 11530
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6576
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: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.526946468356717e-5
allele num: 66428
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
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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bin: 6.25e1
variant carriers: 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 frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.96e-1

MQ
type: SiteQuality
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ClippingRankSum
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QD
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.45627e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.050861361771944e-4
allele num: 9752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.208e1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.458377e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.253e0

GenotypeQuality
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bin: 8.25e1
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: 18

GenotypeQuality
all individuals: 430
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GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 12
allele frequency: 7.282437188979245e-4
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.025641025641026e-4
allele num: 9750
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.011060351045924e-5
allele num: 66544
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

FS
type: SiteQuality
SIO_000300: 5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

DP
type: SiteQuality
SIO_000300: 1.46022e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-2

FS
type: SiteQuality
SIO_000300: 3.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.974e0

VQSLOD
type: SiteQuality
SIO_000300: 9.360000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

DP
type: SiteQuality
SIO_000300: 1.461298e6

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

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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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.360000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.974e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-2

DP
type: SiteQuality
SIO_000300: 1.461298e6

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 2
bin: 1.25e1
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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GenotypeQuality
all individuals: 327
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variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
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: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.305e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.765e0

FS
type: SiteQuality
SIO_000300: 3.774e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

DP
type: SiteQuality
SIO_000300: 1.461176e6

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503985561738607e-5
allele num: 66490
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 1.461069e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.718e0

VQSLOD
type: SiteQuality
SIO_000300: -1.018e-1

FS
type: SiteQuality
SIO_000300: 3.279e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
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: 8606
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 1.460899e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.023e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.09e-1

QD
type: SiteQuality
SIO_000300: 1.135e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-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

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66462
num of homozygotes: 0

Other
type: Population
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MQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.02e-1

DP
type: SiteQuality
SIO_000300: 1.460874e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

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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East Asian
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allele count: 0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66458
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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allele count: 1
allele frequency: 1.032844453625284e-4
allele num: 9682
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South Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.649e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-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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bin: 8.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66406
num of homozygotes: 0

Other
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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

South Asian
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allele frequency: 2.429248147698287e-4
allele num: 16466
num of homozygotes: 0

ReadPosRankSum
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SIO_000300: 1.83e0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.517936206740761e-5
allele num: 66402
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66380
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11524
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
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Other
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

BaseQRankSum
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SIO_000300: -1.74e0

FS
type: SiteQuality
SIO_000300: 6.405e0

InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

South Asian
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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: 8594
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 (Non-Finnish)
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allele count: 1
allele frequency: 1.507386192342478e-5
allele num: 66340
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.375e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

BaseQRankSum
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SIO_000300: -9.31e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

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

East Asian
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allele count: 15
allele frequency: 1.74784432533209e-3
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66060
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 2.775e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.455128e6

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

QD
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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66060
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

Other
type: Population
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num of homozygotes: 0

South Asian
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allele num: 16438
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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African
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East Asian
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South Asian
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European (Non-Finnish)
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allele num: 66062
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European (Finnish)
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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DP
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FS
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VQSLOD
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MQ
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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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African
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Other
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.51372952680815e-5
allele num: 66062
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South Asian
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
type: SiteQuality
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QD
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FS
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DP
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MQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

European (Finnish)
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East Asian
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African
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Latino
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European (Non-Finnish)
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allele num: 65084
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South Asian
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Other
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MQ
type: SiteQuality
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.732099196646873e-5
allele num: 11452
num of homozygotes: 0

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

African
type: Population
allele count: 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: 16222
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.401647e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.81e0

QD
type: SiteQuality
SIO_000300: 1.386e1

VQSLOD
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

FS
type: SiteQuality
SIO_000300: 1.668e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.096e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

GenotypeQuality
all individuals: 44062
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4594
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.739730816290858e-5
allele num: 11442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54669471339747e-5
allele num: 64654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16194
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.3313e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.394735e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.824e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.095e0

QD
type: SiteQuality
SIO_000300: 1.353e1

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3184
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43229
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9310
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.749169144656288e-4
allele num: 11434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e0

VQSLOD
type: SiteQuality
SIO_000300: 4.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.815e0

FS
type: SiteQuality
SIO_000300: 6.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 1.387669e6

QD
type: SiteQuality
SIO_000300: 1.132e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 748
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42106
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
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variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 187
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552505744271254e-5
allele num: 64412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 1.376926e6

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

FS
type: SiteQuality
SIO_000300: 1.078e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

GenotypeQuality
all individuals: 267
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1272
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42299
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.104144032283098e-5
allele num: 64430
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.911e0

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

FS
type: SiteQuality
SIO_000300: 4.039e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.376483e6

VQSLOD
type: SiteQuality
SIO_000300: 4.74e-1

GenotypeQuality
all individuals: 1252
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41285
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 423
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variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3907
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.751313485113835e-4
allele num: 11420
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.24e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.237e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

DP
type: SiteQuality
SIO_000300: 1.364498e6

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 1332
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1789
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4360
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
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variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557341306920825e-5
allele num: 64212
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 4.175e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

QD
type: SiteQuality
SIO_000300: 1.716e1

DP
type: SiteQuality
SIO_000300: 1.359703e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.162e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.526e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.51e-1